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Summary
GAUCHER DISEASE TYPE III
231000
OMIM = Online Medalian Inheritance of Men
77261
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
ataxia
behavior, hyperactive, restless
bone marrow abnormality
extrapyramidal signs
eye movements, abnormal
hepatomegaly (large liver)
infections (severe or recurrent)
mental retardation
neurological deterioration
onset, child
seizures
splenomegaly (large spleen)
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
Beutler EGrabowski GAGaucher diseaseThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.2862641-26701995
Segal SBerry GTDisorders of galactose metabolismThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.125967-10001995
de Lonlay Pet al.A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 casesJ Med Genet38114-192001
Lorenzini SMannoni A, Selvi EAlkaptonuriaN Engl J Med3481414082003