Rare Diseases Symptoms Automatic Extraction

Krabbe disease: the importance of early diagnosis for prognosis.

[krabbe disease]

Krabbe disease (globoid cell leukodystrophy) is an inherited recessive autosomal leukodystrophy caused by deficiency of the enzyme galactocerebrosidase. The lack of this enzyme leads to the build-up of galactolipids that will promote the death of oligodendrocytes and the demyelination of the central and peripheral nervous systems. There are two clinical forms: early onset and late onset. This article reports a case of late onset Krabbe disease and discusses the importance of early diagnosis for its prognosis.

Diseases presenting "late onset" symptom

  • adrenomyeloneuropathy
  • cadasil
  • canavan disease
  • congenital adrenal hyperplasia
  • cowden syndrome
  • cutaneous mastocytosis
  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • krabbe disease
  • neonatal adrenoleukodystrophy
  • omenn syndrome
  • phenylketonuria
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • thoracic outlet syndrome
  • triple a syndrome
  • zellweger syndrome

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