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Summary
CREATINE-TRANSPORTER DEFECT
CEREBRAL CREATINE DEFICIENCY SYNDROME 1, X-LINKED CRTR
300352
OMIM = Online Medalian Inheritance of Men
52503
Xq28
  • anticonvulsants
  • gastrostomy tube
  • no specific treatment
rare
X-linked recessive
symptoms
behavior, abnormal or bizarre, confusion
behavior, autism or autistic-like
dysmorphism
dystonia
epilepsy
extrapyramidal signs
failure to thrive
growth retardation
hypotonia
learning disability
mental retardation
onset, infant
seizures
speech development, delayed, abnormal
vomiting
laboratory finding
MRS, brain, abnormalities -
Creatine0.000.00 increasedurineno data
2-Oxoglutaric acid0.000.00 increasedurineno data
Citrate0.000.00 increasedurinenewborn
Creatinine decreasedplasma
Creatine/creatinine ratio0.000.00 increasedurineno data
Creatine uptake decreasedfibroblasts
Literature
Wei Het al.Pharmacological induction of peroxisomes in peroxisome biogenesis disordersAnn Neurol473286-2962000
Bonnefont JPet al.The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states Eur J Pediatr150080-851990
Gootjes Jet al.Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorderPediatr Res553431-4362004
Roze Eet al.Dystonia and parkinsonism in GM1 type 3 gangliosidosisMov Disord002005
Bonnefont JPet al.The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states Eur J Pediatr150080-851990
To-Figueras Jet al.Biochemical and genetic characterization of four cases of hereditary coproporphyria in SpainMol Genet Metab852160-1632005
Bonnefont JPet al.The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states Eur J Pediatr150080-851990
Ahn JKet al.A new autosomal recessive syndrome with Zellweger-like manifestationsAm J Med Genet1193352-3552003
Gootjes Jet al.Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorderEur J Hum Genet122115-1202004
Bonnefont JPet al.The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states Eur J Pediatr150080-851990
Bonnefont JPet al.The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states Eur J Pediatr150080-851990
Schwahn BCet al.Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiencyBiochem J3820831-8402004
Levy HLYu JJ, Waisbren SEMaternal histidinaemia: pregnancies and offspring outcomesJ Inherit Metab Dis272197-2042004