Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency
<p>Abstract</p> <p>Succinic semialdehyde dehydrogenase (SSADH; aldehyde dehydrogenase 5A1 [ALDH5A1]; locus 6p22) occupies a central position in central nervous system (CNS) neurotransmitter metabolism as one of two enzymes necessary for <it>γ</it>-aminobutyric acid (GAB...
Main Authors: | Malaspina Patrizia, Picklo Matthew J, Jakobs C, Snead O Carter, Gibson K Michael |
---|---|
Format: | Article |
Language: | English |
Published: |
BMC
2009-01-01
|
Series: | Human Genomics |
Subjects: | |
Online Access: | http://www.humgenomics.com/content/3/2/106 |
Similar Items
-
Succinic semialdehyde dehydrogenase deficiency presenting with central hypothyroidism
by: Malak Ali Alghamdi, et al.
Published: (2021-01-01) -
Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency
by: Ping Wang, et al.
Published: (2019-05-01) -
Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency
by: Sangeetha Yoganathan, et al.
Published: (2020-01-01) -
Targeted screening of succinic semialdehyde dehydrogenase deficiency (SSADHD) employing an enzymatic assay for γ-hydroxybutyric acid (GHB) in biofluids
by: C. Wernli, et al.
Published: (2017-06-01) -
GABA-Ergic Dysfunction in Succinic Semialdehyde Dehydrogenase Deficiency
by: J Gordon Millichap
Published: (2012-08-01)