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Summary
CEREBRAL CREATINE DEFICIENCY SYNDROME 1 CCDS1 CREATINE-TRANSPORTER DEFECT (CTD)
CREATINE DEFICIENCY SYNDROME, X-LINKED
300352
OMIM = Online Medalian Inheritance of Men
52503
Xq28
  • anticonvulsants
  • gastrostomy tube
  • no specific treatment
rare
X-linked recessive
mutation in the creatine transporter gene (SLC6A8)
prevalence of CTD in 0.2ÔÇô3.5% of males with intellectual disabilities or autism
symptoms
behavior, abnormal or bizarre, confusion
behavior, autism or autistic-like
developmental delay
dysmorphism
dystonia
epilepsy
extrapyramidal signs
failure to thrive
growth retardation, poor growth
hypoglycemia
hypotonia
learning disability
liver involvement or dysfunction
mental retardation
microcephaly (<2 SD for age)
onset, childhood
onset, infancy
ptosis (drooping eyelid)
seizures
sex: male > female
speech development, delayed, abnormal
vomiting
laboratory finding
MRS, brain, abnormalities -
Creatine700.002800.00 mmol/mol creatinineurine
Citric acid1500.002500.00 mmol/mol creatinineurine
Creatinine decreasedplasma
Creatine/creatinine ratio2.005.00 ratiourine
Creatine uptake decreasedfibroblasts
D-Glucose2.005.00 mmol/lplasma
Literature
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Clifford-Mobley O,Hewitt L2, Rumsby GSimultaneous analysis of urinary metabolites for preliminary identification of primary hyperoxaluriaAnn Clin Biochem534485-4942016
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Koehler K,et al.Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunctionAm J Hum Genet934727-7342013