Inherited disorders of gamma-aminobutyric acid metabolism and advances inALDH5A1mutation identification
نویسندگان
چکیده
منابع مشابه
Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.
Inherited disorders of gamma-aminobutyric acid (GABA) metabolism include succinic semialdehyde dehydrogenase (SSADH) and gamma-aminobutyric acid transaminase (GABA-T) deficiencies. The clinical features, pathophysiology, diagnosis, and management of both, and an updated list of mutations in the ALDH5A1 gene, which cause SSADH deficiency, are discussed. A database of 112 individuals (71 children...
متن کاملMetabolism and functions of gamma-aminobutyric acid.
Gamma-aminobutyric acid (GABA), a four-carbon non-protein amino acid, is a significant component of the free amino acid pool in most prokaryotic and eukaryotic organisms. In plants, stress initiates a signal-transduction pathway, in which increased cytosolic Ca2+ activates Ca2+/calmodulin-dependent glutamate decarboxylase activity and GABA synthesis. Elevated H+ and substrate levels can also st...
متن کاملGamma-aminobutyric Acid Metabolism in Rats following Microwave Exposure
Gamma-aminobutyric acid (GABA) metabolism was studied in rats chronically exposed to 2.86 GHz microwaves at an incident power level of 10 mW/cm or acutely exposed to incident power levels of 40 or 80 mW/cm. No changes occurred in whole brain GABA levels or L-glutamic decarboxylase activity following these exposures. These results suggest that an altered GABA metabolism is not involved in report...
متن کاملP146: Gamma Aminobutyric Acid (GABA) and its Alterations in Stress
Gamma aminobutyrate (GABA) is a non-protein amino acid that is thought to play an important role in the modulation of the central response to stress. Mechanisms by which GABA may facilitate these responses to stress are metabolic and/or mechanical disruptions. Environmental stresses increase GABA accumulation through cytosolic acidification, induce an acidic pH-dependent activation of glutamate...
متن کاملGamma-Aminobutyric Acid (GABA) Monograpy
Introduction Gamma-aminobutyric acid (GABA) is a major neuro transmitter widely distributed throughout the central nervous system (CNS). Because too much excitation can lead to irritability, restlessness, insomnia, seizures, and movement disorders, it must be balanced with inhibition. GABA – the most important inhibitory neurotransmitter in the brain – provides this inhibition, acting like a “b...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Developmental Medicine & Child Neurology
سال: 2014
ISSN: 0012-1622
DOI: 10.1111/dmcn.12668