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GENATLAS PHENOTYPE
last update : 18-09-2009
Symbol CFLTD
Location 11q13.4
Name cerebral folate transport defect
Other name(s) neurodegeneration due to cerebral folate transport deficiency
Corresponding gene FOLR1
Main clinical features
  • progressive movement disturbance, psychomotor decline, and epilepsy and showed severely reduced folate concentrations in the cerebrospinal fluid (CSF)
  • brain magnetic resonance imaging (MRI) demonstrated profound hypomyelination
  • onset in late infancy with severe developmental regression, movement disturbances, epilepsy, and leukodystrophy; folinic acid therapy can reverse the clinical symptoms and improve brain abnormalities and function
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/organic acid
    Type disease
    Remark(s)