Rare Diseases Symptoms Automatic Extraction

[Globoid cell leukodystrophy of adult. A first case in Poland].

[krabbe disease]

Krabbe disease (globoid cell leukodystrophy) is a progressive, autosomal recessive disorder affecting peripheral and central nervous system. This disease is associated with mutation in GALC gene and its locus has been mapped to chromosome 14q31. GALC gene codes lysosomal hydrolytic enzyme: galactocerebroside β-galactosidase (galactosylceramidase) which is crucial for degradation of galactolipids, mostly galactosylceramide and galactosylsphingosine (psychosine). The disease may be subdivided into four types: infantile form with onset within the first six months, child form presenting between 6 months and 3 years, juvenile form presenting between 3 and 10 years and the rarest adult form with onset after 10 years. The diagnosis of Krabbe disease is based on clinical findings and confirmed with galactocerebroside β-galactosidase deficiency. We have found family with adult-onset disease. To our knowledge, this is the first observation of patient with adult form of Krabbe disease in Poland.

Diseases presenting "central nervous system" symptom

  • 22q11.2 deletion syndrome
  • adrenomyeloneuropathy
  • alexander disease
  • aniridia
  • aromatase deficiency
  • canavan disease
  • child syndrome
  • classical phenylketonuria
  • congenital toxoplasmosis
  • cowden syndrome
  • cushing syndrome
  • cystinuria
  • dracunculiasis
  • erdheim-chester disease
  • fabry disease
  • gm1 gangliosidosis
  • hereditary cerebral hemorrhage with amyloidosis
  • hirschsprung disease
  • hodgkin lymphoma, classical
  • kabuki syndrome
  • kallmann syndrome
  • kindler syndrome
  • krabbe disease
  • lamellar ichthyosis
  • legionellosis
  • liposarcoma
  • malignant atrophic papulosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • phenylketonuria
  • proteus syndrome
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • triple a syndrome
  • von hippel-lindau disease
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

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