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Summary
GAUCHER DISEASE TYPE I
230800
OMIM = Online Medalian Inheritance of Men
77259
1q22
  • enzyme replacement therapy
  • splenectomy
  • substrate reduction therapy (SRT)
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
anemia
arthritis
bleeding tendencies, hemorrhages
bone fractures
cirrhosis or fibrosis of liver
growth retardation
hepatomegaly (large liver)
hyperpigmentation
neurological deterioration
neutropenia (decreased neutrophils)
onset, adult
onset, child
pain, bones
pigmentation, skin and sclera
respiratory insufficiency
skeletal changes
splenomegaly (large spleen)
thrombopenia, thrombocytopenia
laboratory finding
Glucocerebrosidase 100.00decreased activityfibroblasts
Glucocerebrosidase 100.00decreased activityleucocytes
Gaucher cells, bone marrow, spleen bone marrow
bleeding time 3.005.00prolongedblood
DNA
beta-Glucosidase
Literature
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
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Shin YSGalactose Metabolites and Disorders of Galactose MetabolismTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00267-2831991
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
Hoffmann GFDie Mevalonazidurie - eine Stoffwechselerkrankung der Cholesterin- und IsoprenoidbiosyntheseThieme Verlag Stuttgart New York001994
Mayatepek Eet al.Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with sever progressive encephalomyopathy: a new genetic disease?Eur J Pediatr1555398-4031996
Mayatepek Eet al.Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduriaJ Inherit Metab Dis182249-2521995
Bonnefont JPet al.The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states Eur J Pediatr150080-851990
Slocum RHCummings, J.G.Amino Acid Analysis of Physiological SamplesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York0087-1251991