Visit Metagene.de!
Summary
GAUCHER DISEASE TYPE III
GAUCHER DISEASE, SUBACUTE NEURONOPATHIC TYPE
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
- cardiovascular (IIIC) MIM 231005
symptoms
ataxia
behavior, hyperactive, restless
bone marrow abnormality
cardiac involvement
dementia
extrapyramidal signs
eye movements, abnormal
hepatomegaly (large liver)
infections (severe or recurrent)
mental retardation
motor retardation
myoclonus
neurological deterioration
onset, childhood
seizures
short stature
spastic diplegia/quadriplegia
speech development, delayed, abnormal
splenomegaly (large spleen)
thrombopenia, thrombocytopenia
laboratory finding
Glucocerebrosidase 100.00decreased activityfibroblasts
Glucocerebrosidase 100.00decreased activityleucocytes
DNA
Glucosylceramidase (beta-Glucosidase) decreased activityleucocytes
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
Gregg ARet al.Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologiesJ Inherit Metab Dis2143821998
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
Blau Net al.Physicians Guide to the Laboratory Diagnosis of Metabolic DiseasesSpringer000
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
Perry TLHansen SCystinylglycine in plasma: diagnostic relevance for pyroglutamic acidemia, homocystinuria, and phenylketonuriaClin Chim Acta2507-121981