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Article

A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal.

Molecular genetics and metabolism - 1 May 2007

Almeida L S, Vilarinho L, Darmin P S, Rosenberg E H, Martinez-Muñoz C, Jakobs C, Salomons G S

Abstract excerpt

Guanidinoacetate methyltransferase (GAMT) deficiency (MIM 601240), an autosomal recessive disorder of creatine biosynthesis, presents with mental retardation, extrapyramidal symptoms, autistic-like behavior and epilepsy. Other hallmarks are cerebral creatine deficiency, increased levels of guanidinoacetate in body fluids and mutations in the GAMT gene. Creatine supplementation partially restores cerebral creatine...

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Source

Identifiers

PMID: 17336114
DOI: 10.1016/j.ymgme.2007.01.005

Genes

GAMT

Variants

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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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