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A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.

ABSTRACT: Creatine transporter (CT) deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. We describe a clinical, biochemical and molecular examination of a child with X-linked cerebral creatine deficiency. Increased urinary creatine/creatinine ratio, abnormal brain proton magnetic resonance spectroscopy and reduced creatine transport confirmed the clinical diagnosis. SLC6A8 analysis revealed a novel mutation that was hemizygous in the child and not detected in his mother. CT deficiency should be considered in children, especially males, with mental retardation.

SUBMITTER: Cervera-Acedo C

PROVIDER: S-EPMC4785581 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency.

Cervera-Acedo Cristina C Lopez Maria M Aguirre-Lamban Jana J Santibañez Paula P Garcia-Oguiza Alberto A Poch-Olive Maria Luisa ML Dominguez-Garrido Elena E

Human genome variation 20151029

Creatine transporter (CT) deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. We describe a clinical, biochemical and molecular examination of a child with X-linked cerebral creatine deficiency. Increased urinary creatine/creatinine ratio, abnormal brain proton magnetic resonance spectroscopy and reduced creatine transport confirmed the clinical diagnosis. SLC6A8 analysis revealed a novel mutation that was hemizygous in the child and not detected in his mother. CT deficien ...[more]

PMID: 27081545

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