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Summary
GAUCHER DISEASE TYPE II
230900
OMIM = Online Medalian Inheritance of Men
77260
1q22
  • enzyme replacement therapy
1:600 (>350 patients)
autosomal recessive
type I is mainly found in Ashkenazic Jews
3 types:
- chronic/adult (I) MIM 230800
- acute/infantile(II) MIM 230900
- juvenile (III) MIM 231000
symptoms
chorea or athetosis
early death
feeding difficulties, poor feeding
hepatomegaly (large liver)
hydrops fetalis
ichthyosis
infections (severe or recurrent)
mental retardation
neurological deterioration
onset, child
onset, infant
seizures
splenomegaly (large spleen)
strabismus
swallowing difficulties
laboratory finding
Glucocerebrosidase 100.00decreased activityfibroblasts
Glucocerebrosidase 100.00decreased activityleucocytes
DNA
beta-Glucosidase
Literature
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994