Metadata | |
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ID | DOID:0060175 |
Name | succinic semialdehyde dehydrogenase deficiency |
Definition | A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism |
Xrefs | |
Synonyms |
4-hydroxybutyric aciduria [EXACT] gamma-hydroxybutyric aciduria [EXACT] SSADH [EXACT] |
Parent Relationships |