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Article

Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man.

American journal of human genetics - 1 May 1996

Stöckler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K

Abstract excerpt

In two children with an accumulation of guanidinoacetate in brain and a deficiency of creatine in blood, a severe deficiency of guanidinoacetate methyltransferase (GAMT) activity was detected in the liver. Two mutant GAMT alleles were identified that carried a single base substitution within a 5' splice site or a 13-nt insertion and gave rise to four mutant transcripts. Three of the transcripts encode truncated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 8651275
PMCID: PMC1914613

Genes

GAMT

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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