Newborn screening and inborn errors of metabolism
โ Scribed by Marzia Pasquali; Nicola Longo
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 52 KB
- Volume
- 157
- Category
- Article
- ISSN
- 1552-4868
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## Defects in man in four steps of 4aminobutyric acid (GABA) metabolism may interefere with the function of this major inhibitory neurotransmitter. Glutamic acid decarboxylase, 4-aminobutyric acid aminotransferase, succinic semialdehyde dehydrogenase, and homocarnosinase are closely identijied with
## Abstract In general, data regarding maturational processes of different metabolic pathways in the very vulnerable fetal and neonatal period are rare. This review is to substantiate the impact of selected inborn errors of metabolism on this critical period of life and their clinical manifestation