Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UNIPROT:P80404 (
GABA transaminase
)
786
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We perform systematically amino acid analysis of the CSF before and after strong acid hydrolysis in children with unexplained neurological disease. By comparing the amino acid pattern before and after hydrolysis, defects can be traced in the metabolism not only of amino acids but also of purines, peptides, N-acetylated amino acids and peptides, and probably other compounds. This method has yielded important information such as the identification of two "new" diseases,
GABA transaminase
deficiency and
adenylosuccinase
deficiency, and the discovery of a peculiar, acid-labile double peak in the CSF of patients with the transient neonatal hyperammonaemia syndrome and with urea cycle defects. This substance was subsequently identified by others as gamma-glutamylglutamine. As a consequence, we strongly recommend incorporating of this approach in the investigation of all children with unclear neurological disease.
...
PMID:Cerebrospinal fluid as a tool in the diagnosis of neurometabolic diseases: amino acid analysis before and after acid hydrolysis. 795 93
