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Article

Neonatal screening for glutaryl-CoA dehydrogenase deficiency.

Journal of inherited metabolic disease - 1 Jan 2004

Lindner M, Kölker S, Schulze A, Christensen E, Greenberg C R, Hoffmann G F

Abstract excerpt

Acute encephalopathic crisis in glutaryl-CoA dehydrogenase deficiency results in an unfavourable disease course and poor outcome, dominated by dystonia, feeding problems, seizures and secondary complications, and quite often leading to early death. The prerequisite for the prevention of irreversible brain damage in this disease is the detection of affected patients and initiation of treatment before the...

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Source

Identifiers

PMID: 15505392
DOI: 10.1023/B:BOLI.0000045769.96657.af

Genes

GCDH

Provenance

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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