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Article

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism.

Journal of inherited metabolic disease - 1 Jan 2003

Stromberger C, Bodamer O A, Stöckler-Ipsiroglu S

Abstract excerpt

Creatine deficiency syndromes are a newly described group of inborn errors of creatine synthesis (arginine:glycine amidinotransferase (AGAT) deficiency and guanidinoaceteate methyltransferase (GAMT) deficiency) and creatine transport (creatine transporter (CRTR) deficiency). The common clinical denominator of creatine deficiency syndromes is mental retardation and epilepsy, suggesting the main involvement of...

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Source

Identifiers

PMID: 12889668
DOI: 10.1023/a:1024453704800

Genes

GAMT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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