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Livres sur le sujet « Aromatic amino acid decarboxylase »

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Auteur : Grafiati

Publié le 11 mars 2023

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1

Goddijn, Oscar Johannes Maria. Regulation of terpenoid indole alkaloid biosynthesis in Catharanthus roseus : The tryptophan decarboxylase gene. Alblasserdam : Offsetdrukkerij Haveka BV, 1992.

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2

1949-, Sayler Gary S., et Blackburn James W. 1950-, dir. Microbiological decomposition of chlorinated aromatic compounds. New York : M. Dekker, 1987.

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3

Lednicer, Daniel. The organic chemistry of drug synthesis. Chichester : Wiley, 1990.

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4

Lednicer, Daniel. The organic chemistry of drug synthesis. New York : Wiley, 1995.

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5

Baek, Jae-Kyeong. Behavioral studies of dopa-decarboxylase mutant Drosophila lacking serotonin and dopamine in central nervous system. 1987.

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6

Pearl, Phillip L., et William P. Welch. Pediatric Neurotransmitter Disorders. Oxford University Press, 2017. http://dx.doi.org/10.1093/med/9780199937837.003.0059.

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The pediatric neurotransmitter disorders represent an enlarging group of neurological syndromes characterized by inherited abnormalities of neurotransmitter synthesis, metabolism, and transport. Disorders involving monoamine synthesis include guanosine triphosphate cyclohydrolase deficiency (Segawa disease or classical Dopa-responsive dystonia as the heterozygous form), aromatic amino acid decarboxylase deficiency, tyrosine hydrolase deficiency, sepiapterin reductase deficiency, and disorders of tetrahydrobiopterin synthesis. These disorders can be classified according to whether they feature elevated serum levels of phenylalanine. Disorders of γ-amino butyric acid (GABA) metabolism include succinic semialdehyde dehydrogenase deficiency and GABA-transaminase deficiency. Glycine encephalopathy is typically manifested by refractory neonatal seizures due to a defect in the glycine degradative pathway. Pyridoxine-responsive seizures have now been associated with deficiency of α-aminoadipic semialdehyde dehydrogenase as well as a variants requiring therapy with pyridoxal-5-phosphate and folinic acid.

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7

Heales, Simon, Simon Pope, Viruna Neergheen et Manju Kurian. Abnormalities of CSF Neurotransmitters/Folates. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0082.

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The term Neurotansmitter disorder, in the area of metabolic disease, focuses particularly on inborn errors affecting monoamine (dopamine & serotonin), pyridoxal phosphate (B6) and folate metabolism. Whilst there has been considerable focus on these disorders with regards to the paediatric population, it is clear that an increasing number of adult patients are being identified. Adult neurologists need to be aware of the clinical presentation of such patients and the appropriate tests that need to be requested to ensure a correct diagnosis is achieved. CSF profiling, by a specialist laboratory, is often required. This has the ability to very often identify the nature of a primary defect with regards to implementation of appropriate treatment. For some of these disorders, treatment can be effective. This may be in the form of monoamine/vitamin replacement. However there are exceptions, e.g. aromatic amino acid decarboxylase and dopamine transporter deficiencies. There also needs also to be an awareness of the growing list of secondary factors that can cause impaired dopamine and serotonin metabolism.

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8

Hsu, Jean Wei-Chen. Aromatic amino acid requirements and metabolism. 2006.

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9

Berry, Alan. The physiology and regulation of aromatic amino acid biosynthesis in Pseudomonas aeruginosa. 1985.

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10

D'Amato, Thomas Andrew. Gene-enzyme relationships in Nicotina silvestris : Subcellular localization of genes and enzymes for aromatic amino acid biosynthesis. 1986.

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11

Roberts, Susan Ann. Aromatic amino acid metabolism in the human : Estimation of tyrosine requirement in the neonate and adult. 1999.

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12

Gulko, Miriam Kolog. A non-canonical pathway for aromatic amino acid biosynthesis in haloarchaea : Identification and function of essential genes. 2010.

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13

Lachmann, Robin, et Elaine Murphy. Aminoacidopathies, urea cycle disorders, and organic acidurias. Sous la direction de Patrick Davey et David Sprigings. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780199568741.003.0180.

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Aminoacidopathies are caused by deficiencies in enzymes involved in amino acid metabolism and are often characterized by the accumulation of a toxic amino acid. The two diseases most likely to be encountered in adult medicine are phenylketonuria, which is caused by a deficiency of phenylalanine hydroxylase, and maple syrup urine disease (MSUD), which is due to a branched-chain amino acid decarboxylase deficiency. High levels of phenylalanine progressively damage the developing brain, leading to severe learning difficulties. The high levels of leucine which accumulate in MSUD produce an acute encephalopathy which, if not treated, can rapidly become fatal.

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14

Lednicer, Daniel. Organic Chemistry of Drug Synthesis. Wiley & Sons, Incorporated, John, 2013.

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15

Lednicer, Daniel, et Lester A. Mitscher. Volume 4, The Organic Chemistry of Drug Synthesis. Wiley-Interscience, 1990.

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16

Lednicer, Daniel. Organic Chemistry of Drug Synthesis. Wiley & Sons, Incorporated, John, 2007.

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