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CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1; CREATINE-TRANSPORTER DEFECT (CTD)

CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1; CREATINE-TRANSPORTER DEFECT (CTD)
CREATINE DEFICIENCY SYNDROME, X-LINKED
300352
OMIM = Online Mendelian Inheritance of Men
52503
sodium- and chloride-dependent creatine transporter 1
Xq28
E72.8
rare
X-linked recessive
mutation in the creatine transporter gene (SLC6A8)
prevalence of CTD in 0.2–3.5% of males with intellectual disabilities or autism
Laboratory findingsCreatine inc (urine)
Creatine/creatinine ratio inc (urine)
D-Glucose normal/dec (plasma)
    Citric acid inc (urine)
    Creatine uptake dec (fibroblasts)
    Creatinine dec (plasma)
Symptomsbehavior, autism or autistic-like
epilepsy
   constipation
   developmental delay
   sex: male > female
   speech development, delayed, abnormal
    behavior, abnormal or bizarre, confusion
    dysmorphism
    dystonia
    extrapyramidal signs
    failure to thrive
    growth retardation, poor growth
    hypoglycemia
    hypotonia
    learning disability
    liver involvement or dysfunction
    mental retardation
    microcephaly (<2 SD for age)
    MRS, brain, abnormalities
    onset, childhood
    onset, infancy
    ptosis (drooping eyelid)
    seizures
    vomiting