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Article

Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.

American journal of medical genetics. Part A - 1 Oct 2011

Mencarelli Maria Antonietta, Tassini Maria, Pollazzon Marzia, Vivi Antonio, Calderisi Marco, Falco Michele, Fichera Marco, Monti Lucia, Buoni Sabrina, Mari Francesca, Engelke Udo, Wevers Ron A, Hayek Joussef, Renieri Alessandra

Abstract excerpt

Creatine deficiency syndrome due to mutations in X-linked SLC6A8 gene results in nonspecific intellectual disability (ID). Diagnosis cannot be established on clinical grounds and is often based on the assessment of brain creatine levels by magnetic resonance spectroscopy (MRS). Considering high costs of MRS and necessity of sedation, this technique cannot be used as a first level-screening test. Likewise, gene...

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Identifiers

PMID: 21910234
DOI: 10.1002/ajmg.a.34208
PMCID: PMC3306553

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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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