" /> Cerebral creatine deficiency syndrome 1 - CISMeF





Preferred Label : Cerebral creatine deficiency syndrome 1;

Symbol : CCDS1;

CISMeF acronym : CCDS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Creatine transporter defect; Mental retardation, X-linked, with seizures, short stature, and midface hypoplasia; Creatine deficiency syndrome, X-linked; Mental retardation, X-linked, with creatine transport deficiency;

Description : Cerebral creatine deficiency syndrome-1 is an X-linked disorder of creatine (Cr) transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. It has a prevalence of 0.3 to 3.5% in males. Carrier females may show mild neuropsychologic impairment (summary by van de Kamp et al., 2011). - Genetic Heterogeneity of Cerebral Creatine Deficiency Syndrome See also CCDS2 (612736), caused by mutation in the GAMT gene (601240) on chromosome 19p13, and CCDS3 (612718), caused by mutation in the AGAT gene (GATM; 602360) on chromosome 15q15.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the creatine transporter gene (SLC6A8, 300036.0001);

Laboratory abnormalities : Impaired creatine uptake in fibroblasts; Increased urinary creatine; Increased plasma creatine; Increased urinary creatine-to-creatinine ratio;

Prefixed ID : #300352;

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27/07/2025


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