Krabbe disease

external

• Synonyms

  • Globoid cell leukodystrophy
  • Galactosylceramide lipidosis
  • Galactocerebrosidase deficiency
  • Galactosylceramide beta-galactosidase deficiency
  • GALC deficiency
  • Beta-galactocerebrosidase deficiency

• Effects

  • Elevated protein in CSF
  • Demyelination of central nervous system
  • Optic atrophy
  • Global developmental delay
  • Demyelination of peripheral nerve
  • Congenital deafness
  • Abnormal white cell enzyme
  • Metabolic epilepsy

• Parents

  • Sphingolipidosis
  • Leukodystrophy

• Description

  • "1:100000 14q31.3 age 6 months"