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01-09-2005 | Short Communication

X-linked creatine transporter deficiency

Clinical description of a patient with a novel SLC6A8 gene mutation

Authors: Maria C. Schiaffino, Carlo Bellini, Laura Costabello, Ubaldo Caruso, Cornelis Jakobs, Gajja S. Salomons, Eugenio Bonioli

Published in: Neurogenetics | Issue 3/2005

Abstract

Creatine transporter deficiency is an X-linked disorder characterized by mental retardation and language delay. The authors report a patient affected by creatine transport deficiency caused by a novel mutation in the SLC6A8 gene. Impairment in social interaction represents a consistent clinical finding in the few cases described to date and may be a diagnostic clue for creatine transporter deficiency in males affected by mental retardation, seizures, and language impairment.

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Title: X-linked creatine transporter deficiency
Clinical description of a patient with a novel SLC6A8 gene mutation
Authors: Maria C. Schiaffino
Carlo Bellini
Laura Costabello
Ubaldo Caruso
Cornelis Jakobs
Gajja S. Salomons
Eugenio Bonioli
Publication date: 01-09-2005
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 3/2005
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-005-0002-4

At a glance: The STEP trials

Springer Medicine

X-linked creatine transporter deficiency

Clinical description of a patient with a novel SLC6A8 gene mutation

Abstract

At a glance: The STEP trials

Springer Medicine

Abstract

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