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Article

Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.

Brain & development - 1 Jan 2016

Radha Rama Devi A, Ramesh Vakkalagadda A, Nagarajaram H A, Satish S P S, Jayanthi U, Lingappa Lokesh

Abstract excerpt

BACKGROUND: Glutaric aciduria type I is an autosomal recessive organic acid disorder. The primary defect is the deficiency of Glutaryl-CoA dehydrogenase (EC number 1.3.99.7) enzyme that is involved in the catabolic pathways of the amino acids l-lysine, l-hydroxylysine, and l-tryptophan. It is a treatable neuro-metabolic disorder. Early diagnosis and treatment helps in preventing brain damage. METHODS: The...

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Identifiers

PMID: 26071121
DOI: 10.1016/j.braindev.2015.05.013

Genes

GCDH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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