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Article

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

Annals of neurology - 1 Aug 2002

Bizzi Alberto, Bugiani Marianna, Salomons Gajja S, Hunneman Donald H, Moroni Isabella, Estienne Margherita, Danesi Ugo, Jakobs Cornelis, Uziel Graziella

Abstract excerpt

Among creatine deficiency syndromes, an X-linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a mutation in the SLC6A8 (Online Mendelian Inheritance in Man [OMIM] 300036)...

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Identifiers

PMID: 12210795
DOI: 10.1002/ana.10246

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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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