Artículos de revistas: "AADC Deficiency"

1

Hwu, W. L., Y. H. Chien, N. C. Lee y S. I. Muramatsu. "AADC Deficiency". Journal of the Neurological Sciences 381 (octubre de 2017): 33–34. http://dx.doi.org/10.1016/j.jns.2017.08.142.

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Marchese, Francesca, Elena Faedo, Maria Stella Vari, Patrizia Bergonzini, Michele Iacomino, Azzurra Guerra, Laura Franceschetti et al. "Atypical Presentation of Aromatic L-Amino Acid Decarboxylase Deficiency with Developmental Epileptic Encephalopathy". Journal of Pediatric Epilepsy 10, n.º 03 (9 de febrero de 2021): 124–27. http://dx.doi.org/10.1055/s-0041-1723768.

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AbstractAromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive metabolic disorder resulting from disease-causing pathogenic variants of the dopa decarboxylase (DDC) gene. The neurological features of AADC deficiency include early-onset hypotonia, oculogyric crises, ptosis, dystonia, hypokinesia, impaired development, and autonomic dysfunction. In this article, we reported a patient with genetically confirmed AADC deficiency presenting with developmental epileptic encephalopathy (DEE). Our patient was a boy with severe intractable epileptic spasms and DEE. The patient was evaluated for cognitive and neurologic impairment. Exome sequencing revealed a homozygous mutation (NM_000790.4:c.121C > A; p.Leu41Met) in the DDC gene. This case expands the clinical spectrum of AADC deficiency and strengthens the association between dopa decarboxylase deficiency and epilepsy. Additional studies are warranted to clarify the mechanisms linking dopa decarboxylase dysfunction to DEE.

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3

Montioli, Riccardo y Carla Borri Voltattorni. "Aromatic Amino Acid Decarboxylase Deficiency: The Added Value of Biochemistry". International Journal of Molecular Sciences 22, n.º 6 (19 de marzo de 2021): 3146. http://dx.doi.org/10.3390/ijms22063146.

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Aromatic amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive neurometabolic disorder caused by mutations in the DDC gene, leading to a deficit of AADC, a pyridoxal 5′-phosphate requiring enzyme that catalyzes the decarboxylation of L-Dopa and L-5-hydroxytryptophan in dopamine and serotonin, respectively. Although clinical and genetic studies have given the major contribution to the diagnosis and therapy of AADC deficiency, biochemical investigations have also helped the comprehension of this disorder at a molecular level. Here, we reported the steps leading to the elucidation of the functional and structural features of the enzyme that were useful to identify the different molecular defects caused by the mutations, either in homozygosis or in heterozygosis, associated with AADC deficiency. By revisiting the biochemical data available on the characterization of the pathogenic variants in the purified recombinant form, and interpreting them on the basis of the structure-function relationship of AADC, it was possible: (i) to define the enzymatic phenotype of patients harboring pathogenic mutations and at the same time to propose specific therapeutic managements, and (ii) to identify residues and/or regions of the enzyme relevant for catalysis and/or folding of AADC.

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4

Kondakova, O. B., K. A. Kazakova, A. A. Lyalina, N. V. Lapshina, A. A. Pushkov, N. N. Mazanova, Yu I. Davydova, D. I. Grebenkin, I. V. Kanivets y K. V. Savostyanov. "Family case of aromatic L-amino acid decarboxylase deficiency". Neuromuscular Diseases 12, n.º 4 (13 de diciembre de 2022): 88–98. http://dx.doi.org/10.17650/2222-8721-2022-12-4-88-98.

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Aromatic L‑amino acid decarboxylase (AADC) deficiency is rare autosomal recessive neurometabolic disorder. It caused by generalized combined deficiency of serotonin, dopamine, norepinephrine and adrenaline. This disorder is characterized by muscular hypotonia, motor development delay, oculogyric crises and impairment of the autonomic nervous system.Laboratory diagnostic of AADC deficiency in Russian Federation includes determination of the concentration of 3‑O‑methyldophamine in dried blood spots by tandem mass spectrometry and molecular analysis of the DDC gene by Sanger sequencing or next generation sequencing.Therapy of AADC deficiency includes combination of drugs which increase the formation of dopamine, inhibit its reuptake and increase the residual activity of the enzyme. The first‑line drugs are selective dopamine agonists, monoamine oxidase inhibitors of type B and vitamin B6 supplements.We present the case of management and treatment of patients with AADC deficiency. The patient’s condition was improved by using of combination therapy with pyridoxal‑5‑phosphate, pramipexole and selegiline. Significant positive dynamics was achieved on pyridoxal‑5‑phosphate therapy for the first time.

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5

Micallef, J., S. Stockler-Ipsiroglu, C. D. van Karnebeek, R. Salvarinova-Zivkovic y G. Horvath. "Recurrent Dystonic Crisis and Rhabdomyolysis Treated with Dantrolene in Two Patients with Aromatic L-Amino Acid Decarboxylase Deficiency". Neuropediatrics 51, n.º 03 (14 de enero de 2020): 229–32. http://dx.doi.org/10.1055/s-0039-3402010.

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AbstractAromatic L-amino acid decarboxylase (AADC) deficiency is a rare, autosomal recessive inborn error of metabolism in which several neurotransmitters including serotonin, dopamine, norepinephrine and epinephrine are deficient. Symptoms typically appear in the first year of life and include oculogyric crises and dystonia, hypotonia, and global developmental delay. Dystonia is of particular concern as a dystonic storm can ensue leading to rhabdomyolysis. Rhabdomyolysis can become life-threating and therefore its recognition and prompt management is of significant importance. Here we present two cases of patients with AADC deficiency and a history of dystonic crisis causing rhabdomyolysis. We hypothesize that in addition to the hypodopaminergic, a hypercholinergic state is contributing to the pathophysiology of dystonia in AADC deficiency, as well as to the associated rhabdomyolysis. We were able to prevent rhabdomyolysis in both patients with using Dantrolene and we suggest using a trial of this medication in cases of sustained dystonic crisis in AADC deficiency patients.

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6

Rossignoli, Giada, Karolin Krämer, Eleonora Lugarà, Haya Alrashidi, Simon Pope, Carmen De La Fuente Barrigon, Katy Barwick et al. "Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies". Brain 144, n.º 8 (18 de marzo de 2021): 2443–56. http://dx.doi.org/10.1093/brain/awab123.

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Abstract Aromatic l-amino acid decarboxylase (AADC) deficiency is a complex inherited neurological disorder of monoamine synthesis which results in dopamine and serotonin deficiency. The majority of affected individuals have variable, though often severe cognitive and motor delay, with a complex movement disorder and high risk of premature mortality. For most, standard pharmacological treatment provides only limited clinical benefit. Promising gene therapy approaches are emerging, though may not be either suitable or easily accessible for all patients. To characterize the underlying disease pathophysiology and guide precision therapies, we generated a patient-derived midbrain dopaminergic neuronal model of AADC deficiency from induced pluripotent stem cells. The neuronal model recapitulates key disease features, including absent AADC enzyme activity and dysregulated dopamine metabolism. We observed developmental defects affecting synaptic maturation and neuronal electrical properties, which were improved by lentiviral gene therapy. Bioinformatic and biochemical analyses on recombinant AADC predicted that the activity of one variant could be improved by l-3,4-dihydroxyphenylalanine (l-DOPA) administration; this hypothesis was corroborated in the patient-derived neuronal model, where l-DOPA treatment leads to amelioration of dopamine metabolites. Our study has shown that patient-derived disease modelling provides further insight into the neurodevelopmental sequelae of AADC deficiency, as well as a robust platform to investigate and develop personalized therapeutic approaches.

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7

Gantz, Emily, J. Daniel Sharer y Tony M. McGrath. "Diagnosis of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency via Epilepsy Gene Panel Screening in a Patient with Atypical Presentation". Child Neurology Open 10 (enero de 2023): 2329048X2311610. http://dx.doi.org/10.1177/2329048x231161027.

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We describe an atypical presentation of a girl with aromatic L-amino acid decarboxylase (AADC) deficiency identified via a genetic testing program for children with epilepsy. At 21 months of age, she presented with poor head control, diffuse hypotonia, poor fixation, developmental delay, and dysphagia. She was lost to follow-up, then presented back at 3 years of age with staring spells and brief episodes of upward eye deviation. The diagnosis of unprovoked epilepsy allowed her to be included in a genetic testing program, which identified two heterozygous variants in the dopa decarboxylase (DCC) gene. Based on the genetic testing, plasma AADC enzyme activity and plasma 3-O-methyldopa results, a diagnosis of AADC deficiency was made when she was 4 years and 2 months of age. This case report shows that AADC deficiency can be the underlying diagnosis in patients with suspected epilepsy.

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8

Bisello, Giovanni y Mariarita Bertoldi. "Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population". International Journal of Molecular Sciences 23, n.º 19 (23 de septiembre de 2022): 11238. http://dx.doi.org/10.3390/ijms231911238.

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Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease due to mutations in the ddc gene producing AADC, a homodimeric pyridoxal 5′-phosphate-dependent enzyme. The disorder is often fatal in the first decade and is characterized by profound motor impairments and developmental delay. In the last two years, there has been a net rise in the number of patients and variants identified, maybe also pushed by the ongoing gene therapy trials. The majority of the identified genotypes are compound heterozygous (about 70%). Efforts are underway to reach early diagnosis, find possible new markers/new fast methods, and predict clinical outcome. However, no clear correlation of genotype-to-phenotype exists to date. Nevertheless, for homozygous patients, reliable results have been obtained using genetic methods combined with available computational tools on crystal structures corroborated by biochemical investigations on recombinant homodimeric AADC variants that have been obtained and characterized in solution. For these variants, the molecular basis for the defect has been suggested and validated, since it correlates quite well with mildness/severity of the homozygous phenotype. Instead, prediction for compound heterozygous patients is more difficult since complementation effects could happen. Here, by analyzing the existing literature on compound heterozygosity in AADC deficiency and other genetic disorders, we highlight that, in order to assess pathogenicity, the measurement of activity of the AADC heterodimeric variant should be integrated by bioinformatic, structural, and functional data on the whole protein constellation theoretically present in such patients. A wider discussion on symptomatic heterozygosity in AADC deficiency is also presented.

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9

Alfadhel, Majid y Rana Kattan. "Aromatic Amino Acid Decarboxylase Deficiency Not Responding to Pyridoxine and Bromocriptine Therapy: Case Report and Review of Response to Treatment". Journal of Central Nervous System Disease 6 (enero de 2014): JCNSD.S12938. http://dx.doi.org/10.4137/jcnsd.s12938.

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Aromatic L-amino acid decarboxylase (AADC) deficiency (MIM #608643) is an autosomal recessive inborn error of monoamines. It is caused by a mutation in the DDC gene that leads to a deficiency in the AADC enzyme. The clinical features of this condition include a combination of dopamine, noradrenaline, and serotonin deficiencies, and a patient may present with hypotonia, oculogyric crises, sweating, hypersalivation, autonomic dysfunction, and progressive encephalopathy with severe developmental delay. We report the case of an 8-month-old boy who presented with the abovementioned symptoms and who was diagnosed with AADC deficiency based on clinical, biochemical, and molecular investigations. Treatment with bromocriptine and pyridoxine showed no improvement. These data support the findings observed among previously reported cohorts that showed poor response of this disease to current regimens. Alternative therapies are needed to ameliorate the clinical complications associated with this disorder.

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10

Wiznitzer, Max. "Gene therapy for children with AADC deficiency". Lancet Child & Adolescent Health 1, n.º 4 (diciembre de 2017): 250–51. http://dx.doi.org/10.1016/s2352-4642(17)30124-4.

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11

Rizzi, Susanna, Carlotta Spagnoli, Daniele Frattini, Francesco Pisani y Carlo Fusco. "Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review". Behavioural Neurology 2022 (11 de octubre de 2022): 1–7. http://dx.doi.org/10.1155/2022/2210555.

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Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare congenital autosomal recessive metabolic disorder caused by pathogenic homozygous or compound heterozygous variants in the dopa decarboxylase (DDC) gene. Adeno-associated viral vector-mediated gene transfer of the human AADC gene into the putamina has become available. This systematic review on PubMed, Scopus databases, and other sources is aimed at describing the AADC whole phenotypic spectrum in order to facilitate its early diagnosis. Literature reviews, original articles, retrospective and comparative studies, large case series, case reports, and short communications were considered. A database was set up using Microsoft Excel to collect clinical, molecular, biochemical, and therapeutic data. By analysing 261 patients from 41 papers with molecular and/or biochemical diagnosis of AADC deficiency for which individuality could be determined with certainty, we found symptom onset to occur in the first 6 months of life in 93% of cases. Hypotonia and developmental delay are cardinal signs, reported as present in 73.9% and 72% of cases, respectively. Oculogyric crises were seen in 67% of patients while hypokinesia in 42% and ptosis in 26%. Dysautonomic features have been revealed in 53% and gastrointestinal symptoms in 19% of cases. With 37% and 30% of patients reported being affected by sleep and behavioural disorders, it seems to be commoner than previously acknowledged. Although reporting bias cannot be excluded, there is still a need for comprehensive clinical descriptions of symptoms at onset and during follow-up. In fact, our review suggests that most of the neurological and extraneurological symptoms and signs reported, although quite frequent in this condition, are not pathognomonic, and therefore, ADCC deficiency can remain an underdiscovered disorder.

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12

Tay, S. K. H., K. S. Poh, K. Hyland, Y. W. Pang, H. T. Ong, P. S. Low y D. L. M. Goh. "Unusually mild phenotype of AADC deficiency in 2 siblings". Molecular Genetics and Metabolism 91, n.º 4 (agosto de 2007): 374–78. http://dx.doi.org/10.1016/j.ymgme.2007.04.006.

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13

Montioli, Riccardo, Giovanni Bisello, Mirco Dindo, Giada Rossignoli, Carla Borri Voltattorni y Mariarita Bertoldi. "New variants of AADC deficiency expand the knowledge of enzymatic phenotypes". Archives of Biochemistry and Biophysics 682 (marzo de 2020): 108263. http://dx.doi.org/10.1016/j.abb.2020.108263.

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14

Chien, Y. H., N. C. Lee, S. H. Tseng, C. H. Tai, A. M. Conway, M. Pykett y W. L. Hwu. "AGIL-AADC gene therapy results in sustained improvements in motor and developmental milestones through 5 years in children with AADC deficiency". Journal of the Neurological Sciences 405 (octubre de 2019): 27. http://dx.doi.org/10.1016/j.jns.2019.10.261.

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15

Gika, A. D., S. Jones, T. J. Hedderly, S. Heales y M. P. Champion. "O6-5 Aromatic L-amino acid decarboxylase (AADC) deficiency: the UK experience". European Journal of Paediatric Neurology 13 (septiembre de 2009): S14—S15. http://dx.doi.org/10.1016/s1090-3798(09)70044-3.

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16

Lee, Ni-Chung, Yin-Hsiu Chien y Wuh-Liang Hwu. "A review of aromatic l -amino acid decarboxylase (AADC) deficiency in Taiwan". American Journal of Medical Genetics Part C: Seminars in Medical Genetics 181, n.º 2 (7 de enero de 2019): 226–29. http://dx.doi.org/10.1002/ajmg.c.31670.

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17

Himmelreich, Nastassja, Riccardo Montioli, Carla Carducci, Carla Borri Voltattorni y Nenad Blau. "THE LOCUS-SPECIFIC DATABASE OF VARIANTS CAUSING AROMATIC AMINO ACIDS DECARBOXYLASE (AADC) DEFICIENCY". Molecular Genetics and Metabolism 135, n.º 4 (abril de 2022): 276. http://dx.doi.org/10.1016/j.ymgme.2022.01.047.

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18

Tai, Chun-Hwei, Ni-Chung Lee, Yin-Hsiu Chien, Barry J. Byrne, Shin-Ichi Muramatsu, Sheng-Hong Tseng y Wuh-Liang Hwu. "Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency". Molecular Therapy 30, n.º 2 (febrero de 2022): 509–18. http://dx.doi.org/10.1016/j.ymthe.2021.11.005.

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19

Boehnke, A., E. Balman, I. Davidson, K. Hobdell, M. Rance y K. Buesch. "POSC384 Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency in UK: Burden of Disease". Value in Health 25, n.º 1 (enero de 2022): S263. http://dx.doi.org/10.1016/j.jval.2021.11.1285.

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20

Robinson, Richard. "Successful Gene Therapy for AADC Deficiency Opens Therapeutic Options for Other Neurologic Diseases". Neurology Today 21, n.º 17 (2 de septiembre de 2021): 10–12. http://dx.doi.org/10.1097/01.nt.0000792808.17023.2e.

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21

de Bruyn, G., L. Régal, L. Wouters, K. Jansen, G. Buyse y L. Lagae. "P266 – 2077 AADC deficiency with oculogyric crises as the most specific presenting symptom". European Journal of Paediatric Neurology 17 (septiembre de 2013): S126—S127. http://dx.doi.org/10.1016/s1090-3798(13)70445-8.

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22

Saberian, S., P. Rowan, F. Hammes, P. Patel, F. Fernández-Cortés, I. Beitia Ortiz de Zarate y K. Buesch. "POSA192 Disease Burden of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: Signs and Symptoms". Value in Health 25, n.º 1 (enero de 2022): S124. http://dx.doi.org/10.1016/j.jval.2021.11.593.

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23

Lee, Ni-Chung, Shin-Ichi Muramatsu, Yin-Hsiu Chien, Pin-Wen Chen, Kai-Yuan Tzen, Barry J. Byrne y Wuh-Liang Hwu. "201. Neuron-Specific Systemic Gene Therapy for Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency". Molecular Therapy 23 (mayo de 2015): S80. http://dx.doi.org/10.1016/s1525-0016(16)33806-0.

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24

Himmelreich, Nastassja, Mariarita Bertoldi, Giovanni Bisello, Yair Anikster, Bruria Ben Zeev, Yin-Hsiu Chien, Wuh-Liang Hwu et al. "PREVALENCE OF VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY". Molecular Genetics and Metabolism 138, n.º 3 (marzo de 2023): 107421. http://dx.doi.org/10.1016/j.ymgme.2023.107421.

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25

Civallero, Gabriel, Francyne Kubaski, Danilo Pereira, Gabriel Rübensam, Zackary M. Herbst, Camilo Silva, Franciele B. Trapp et al. "Biochemical diagnosis of aromatic-L-amino acid decarboxylase deficiency (AADCD) by assay of AADC activity in plasma using liquid chromatography/tandem mass spectrometry". Molecular Genetics and Metabolism Reports 32 (septiembre de 2022): 100888. http://dx.doi.org/10.1016/j.ymgmr.2022.100888.

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26

Smith, Adam B., Andria Hanbury, Jennifer A. Whitty y Katharina Buesch. "A Discrete Choice Experiment to Derive Health Utilities for Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency". Patient Related Outcome Measures Volume 12 (mayo de 2021): 97–106. http://dx.doi.org/10.2147/prom.s294628.

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27

Wassenberg, Tessa, Ben P. H. Geurtz, Leo Monnens, Ron A. Wevers, Michèl A. Willemsen y Marcel M. Verbeek. "Blood, urine and cerebrospinal fluid analysis in TH and AADC deficiency and the effect of treatment". Molecular Genetics and Metabolism Reports 27 (junio de 2021): 100762. http://dx.doi.org/10.1016/j.ymgmr.2021.100762.

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Boehnke, A., C. Minartz, S. Radeck y A. Neubauer. "POSC206 How Gene Therapy for Rare Diseases Differs from Chronic Therapy: The Case of AADC-Deficiency". Value in Health 25, n.º 1 (enero de 2022): S148. http://dx.doi.org/10.1016/j.jval.2021.11.721.

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Fernández-Cortés, F., S. Saberian, P. Patel, P. Rowan, K. Buesch y I. Beitia Ortiz de Zarate. "POSC69 Healthcare Resource Consumption Associated with Aromatic L-Amino Acid Decarboxylase Deficiency (AADC-D) in Italy". Value in Health 25, n.º 1 (enero de 2022): S99—S100. http://dx.doi.org/10.1016/j.jval.2021.11.474.

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30

Law, Chun Yiu, Tsz Ki Ling, Ka Chung Wong y Ching Wan Lam. "Urine Organic Acid (UOA) Analysis for the diagnosis of Aromatic L-Amino Acid Decarboxylase (AADC) deficiency". Pathology 52 (febrero de 2020): S107. http://dx.doi.org/10.1016/j.pathol.2020.01.367.

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Quelhas-Santos, Janete, Maria Paula Serrão, Isabel Soares-Silva, Cátia Fernandes-Cerqueira, Liliana Simões-Silva, Maria João Pinho, Fernando Remião, Benedita Sampaio-Maia, Gary V. Desir y Manuel Pestana. "Renalase regulates peripheral and central dopaminergic activities". American Journal of Physiology-Renal Physiology 308, n.º 2 (15 de enero de 2015): F84—F91. http://dx.doi.org/10.1152/ajprenal.00274.2014.

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Renalase is a recently identified FAD/NADH-dependent amine oxidase mainly expressed in kidney that is secreted into blood and urine where it was suggested to metabolize catecholamines. The present study evaluated central and peripheral dopaminergic activities in the renalase knockout (KO) mouse model and examined the changes induced by recombinant renalase (RR) administration on plasma and urine catecholamine levels. Compared with wild-type (WT) mice, KO mice presented increased plasma levels of epinephrine (Epi), norepinephrine (NE), and dopamine (DA) that were accompanied by increases in the urinary excretion of Epi, NE, DA. In addition, the KO mice presented an increase in urinary DA-to-l-3,4-dihydroxyphenylalanine (l-DOPA) ratios without changes in renal tubular aromatic-l-amino acid decarboxylase (AADC) activity. By contrast, the in vivo administration of RR (1.5 mg/kg sc) to KO mice was accompanied by significant decreases in plasma levels of Epi, DA, and l-DOPA as well as in urinary excretion of Epi, DA, and DA-to-l-DOPA ratios notwithstanding the accompanied increase in renal AADC activity. In addition, the increase in renal DA output observed in renalase KO mice was accompanied by an increase in the expression of the L-type amino acid transporter like (LAT) 1 that is reversed by the administration of RR in these animals. These results suggest that the overexpression of LAT1 in the renal cortex of the renalase KO mice might contribute to the enhanced l-DOPA availability/uptake and consequently to the activation of the renal dopaminergic system in the presence of renalase deficiency.

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32

Solanke, O., MJ Martel y K. Buesch. "POSA360 Economic Burden of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency in Europe, from the Caregivers Perspective". Value in Health 25, n.º 1 (enero de 2022): S219—S220. http://dx.doi.org/10.1016/j.jval.2021.11.1071.

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Smith, Adam B., Andria Hanbury, Igor Beitia Ortiz de Zarate, Florence Hammes, Gerard de Pouvourville y Katharina Buesch. "Eliciting Health State Utilities for Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Vignette Study in France". Patient Related Outcome Measures Volume 12 (julio de 2021): 237–46. http://dx.doi.org/10.2147/prom.s306228.

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Pearson, Toni S., Laura Gilbert, Thomas Opladen, Angeles Garcia‐Cazorla, Mario Mastrangelo, Vincenzo Leuzzi, Stacy K. H. Tay et al. "AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients". Journal of Inherited Metabolic Disease 43, n.º 5 (14 de mayo de 2020): 1121–30. http://dx.doi.org/10.1002/jimd.12247.

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35

Yang, Shilin, Bing Yao, Yunfeng Zhou, Huiyong Yin, Ming-Zhi Zhang y Raymond C. Harris. "Intrarenal dopamine modulates progressive angiotensin II-mediated renal injury". American Journal of Physiology-Renal Physiology 302, n.º 6 (15 de marzo de 2012): F742—F749. http://dx.doi.org/10.1152/ajprenal.00583.2011.

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It is well-recognized that excessive angiotensin II (ANG II) can mediate progressive renal injury. Previous studies by us and others have indicated that dopamine may modulate actions of ANG II in the kidney. The current studies investigated whether altering intrarenal dopamine levels affected ANG II-mediated renal fibrosis. We utilized a model of increased intrarenal dopamine, catechol- O-methyl-transferase knockout (COMT KO) mice, which have increased kidney dopamine levels due to deletion of a major intrarenal dopamine-metabolizing enzyme. In wild-type mice, chronic ANG II infusion increased renal expression of both of the major dopamine-metabolizing enzymes, COMT and monoamine oxidase. After 8 wk of ANG II infusion, there were no significant differences in blood pressure between wild-type and COMT KO mice. Compared with wild-type, COMT KO mice had decreased albuminuria and tubulointerstitial injury. In response to ANG II infusion, there was decreased expression of both glomerular and tubulointerstitial injury markers (fibronectin, connective tissue growth factor, fibroblast-specific protein-1, collagen I, podocyte vascular endothelial growth factor) in COMT KO mice. We recently reported that ANG II-mediated tubulointerstitial fibrosis is mediated by src-dependent epidermal growth factor receptor (EGFR) activation. In aromatic l-amino acid decarboxylase knockout (AADC KO) mice, a model of intrarenal dopamine deficiency due to selective proximal tubule AADC deletion, which inhibits intrarenal dopamine synthesis, ANG II infusion further increased expression of p-src and pTyr845-EGFR. In contrast, their expression was markedly attenuated in COMT KO mice. These results demonstrate a role for intrarenal dopamine to buffer the detrimental effects of ANG II upon the kidney.

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36

Le Dissez, C., D. Jocelyn, F. Hammes, K. Buesch, F. Maurel y I. Beitia Ortiz de Zarate. "PRO28 Healthcare Resource Use (HCRU) of Patients with Aromatic L-Amino Acid Decarboxylase Deficiency (AADC-D) in France". Value in Health 24 (junio de 2021): S202. http://dx.doi.org/10.1016/j.jval.2021.04.1013.

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37

Buesch, K., K. Williams, H. Skrobanski y S. Acaster. "POSA359 Caring for an Individual with Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: Results from a Caregiver Questionnaire". Value in Health 25, n.º 1 (enero de 2022): S219. http://dx.doi.org/10.1016/j.jval.2021.11.1070.

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38

Smith, Adam B., Andria Hanbury, Jennifer A. Whitty, Igor Beitia Ortiz de Zarate, Florence Hammes, Gérard de Pouvourville y Katharina Buesch. "A Discrete Choice Experiment to Derive Health Utilities for Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency in France". Patient Related Outcome Measures Volume 13 (enero de 2022): 21–30. http://dx.doi.org/10.2147/prom.s332519.

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39

Hwu, Wuh-Liang, Shin-Ichi Muramatsu, Ni-Chung Lee, Yin-Hsiu Chien, Sheng-Hong Tseng, Kai-Yuan Tzen, Richard O. Snyder, Barry J. Byrne, Chun-Hwei Tai y Ruey-Meei Wu. "C-11. An Update on Gene Therapy for the Treatment of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency". Molecular Therapy 23 (mayo de 2015): S103. http://dx.doi.org/10.1016/s1525-0016(16)33868-0.

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40

Fernández-Cortés, F., S. Saberian, P. Patel, P. Rowan, K. Buesch y I. Beitia Ortiz de Zarate. "POSC8 Burden of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency in Italian Patients from Symptomatology and Motor Development Perspective". Value in Health 25, n.º 1 (enero de 2022): S33—S34. http://dx.doi.org/10.1016/j.jval.2021.11.154.

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41

Knedlíková, Lenka, Pavlína Danhofer, Senad Kolář y Hana Ošlejšková. "Aromatic amino acid decarboxylase deficiency (AADC). Perhaps a more common cause of delayed psychomotor development than it might seem". Neurologie pro praxi 23, n.º 5 (6 de octubre de 2022): 381–86. http://dx.doi.org/10.36290/neu.2022.009.

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42

Caine, Charlotte, Meytal Shohat, Jeong-Ki Kim, Koki Nakanishi, Shunichi Homma, Eugene V. Mosharov y Umrao R. Monani. "A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency". Human Molecular Genetics 26, n.º 22 (22 de agosto de 2017): 4406–15. http://dx.doi.org/10.1093/hmg/ddx326.

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43

Williams, K., H. Skrobanski, K. Buesch y S. Acaster. "PCR92 Symptoms and Impacts of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency Among Individuals with Different Levels of Motor Function". Value in Health 25, n.º 7 (julio de 2022): S558. http://dx.doi.org/10.1016/j.jval.2022.04.1435.

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44

Smith, A., A. Hanbury, J. Whitty, I. Beitia Ortiz de Zarate, F. Hammes, G. De Pouvourville y K. Buesch. "PRO50 A Discrete Choice Experiment to Derive Health State Utilities for Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency in France". Value in Health 24 (junio de 2021): S206. http://dx.doi.org/10.1016/j.jval.2021.04.1035.

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45

Ling, Tsz-Ki, Ka-Chung Wong, Candace Yim Chan, Nike Kwai-Cheung Lau, Chun-yiu Law, Han-Chih Hencher Lee, Chi-Kong Lai et al. "Urine organic acid as the first clue towards aromatic L-amino acid decarboxylase (AADC) deficiency in a high prevalence area". Clinica Chimica Acta 521 (octubre de 2021): 40–44. http://dx.doi.org/10.1016/j.cca.2021.06.025.

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46

Saberian, S., P. Rowan, P. Patel, F. Fernández-Cortés, F. Hammes, I. Beitia Ortiz de Zarate y K. Buesch. "POSB238 Disease Burden of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: Healthcare Resource Use (HCRU) Overall and by Disease Severity". Value in Health 25, n.º 1 (enero de 2022): S161. http://dx.doi.org/10.1016/j.jval.2021.11.779.

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47

Bakidou, A., C. Werner y K. Buesch. "PRO8 Age at Onset and Frequency of Clinical Signs and Symptoms in Patients with Aadc Deficiency: A Systematic Literature Review". Value in Health 23 (diciembre de 2020): S691. http://dx.doi.org/10.1016/j.jval.2020.08.1744.

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48

Hwu, PWL, PE Pachelli, YH Chien, NC Lee, SH Tseng, CH Tai, AM Conway et al. "SAFETY AND IMPROVED EFFICACY OUTCOMES IN CHILDREN WITH AADC DEFICIENCY TREATED WITH ELADOCAGENE EXUPARVOVEC GENE THERAPY: RESULTS FROM THREE CLINICAL TRIALS". Cytotherapy 23, n.º 4 (abril de 2021): 33. http://dx.doi.org/10.1016/j.jcyt.2021.02.095.

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49

Smith, A., A. Hanbury, I. Beitia Ortiz de Zarate, F. Hammes, G. De Pouvourville y K. Buesch. "PR1 Capturing the Health-Related Quality of Life of Children Living with Aadc Deficiency through a Vignette Study: A French Experience". Value in Health 24 (junio de 2021): S196. http://dx.doi.org/10.1016/j.jval.2021.04.981.

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Yardi, N. y R. Yardi. "Cases of aadc deficiency need detection as a treatable cause of dystonia and persistent upward deviation of eyes masquerading as seizures". Journal of the Neurological Sciences 405 (octubre de 2019): 77. http://dx.doi.org/10.1016/j.jns.2019.10.1708.

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