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Gamma-aminobutyric acid transaminase deficiency

Disease Export to PDF
Name:
Gamma-aminobutyric acid transaminase deficiency
Description:
A rare disorder of gamma-aminobutyric acid (GABA) metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.
ORPHAcode:
2066
Synonyms:
GABA transaminase deficiency
XREF(s):
Orphanet
MeSH
OMIM
ICD-10
Analyte(s):
ABAT
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14