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GAUCHER DISEASE TYPE I

GAUCHER DISEASE TYPE I
230800
OMIM = Online Mendelian Inheritance of Men
77259
Lysosomal acid glucosylceramidase
3.2.1.45
1q22
E75.2
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
Laboratory findings    1-Methylhydantoin inc (blood)
    bleeding time dec (blood)
    Gaucher cells, bone marrow, spleen (bone marrow)
    Glucosylceramidase dec (fibroblasts)
    Glucosylceramidase dec (leucocytes)
Symptoms    anemia
    arthritis
    bleeding tendencies, hemorrhages
    bone fractures
    cirrhosis or fibrosis of liver
    DNA
    growth retardation, poor growth
    heart involvement
    hepatomegaly (large liver)
    hyperpigmentation
    neurological deterioration
    neutropenia (decreased neutrophils)
    onset, adolescent
    onset, adulthood
    onset, childhood
    pain, bones or joints
    pigmentation, skin and sclera
    pulmonary hypertension
    respiratory insufficiency
    restrictive lung disease
    skeletal changes, skeletal abnormalities
    splenomegaly (large spleen)
    thrombopenia, thrombocytopenia