Literature summary for 1.2.1.31 extracted from

Struys, E.A; Jakobs, C.
Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency (2007), Mol. Genet. Metab., 91, 405.

Search for more literature for 1.2.1.31

Application

Application	Comment	Organism
medicine	alpha-AASA dehydrogenase deficiency results in pyridoxine dependent epilepsy. Patients show pathogenic mutations in the ALDH7A1 gene. Increase of alpha-AASA in urine of patients with alpha-AASA dehydrogenase deficiency makes this biomarker preferable towards the measurement of pipecolic acid, which shows non-specificity	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	alpha-AASA dehydrogenase deficiency is characterised by increases of alpha-aminoadipic semialdehyde in urine, plasma and cerebrospinal fluid	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
alpha-AASA dehydrogenase	-	Homo sapiens
alpha-aminoadipic semialdehyde dehydrogenase	-	Homo sapiens

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Release 2023.1 (January 2023)