GAUCHER DISEASE TYPE II

Question 1

What is  GAUCHER DISEASE TYPE II?

Accepted Answer

rare (>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

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Gaucher-Krankheit Typ 2, Zerebrale Form der infantilen Gaucher-Krankheit, Gaucher-Krankheit, akut-neuronopathischer Typ

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 230900

Question 4

Which enzymes are involved?

Accepted Answer

Glucosylceramidase

Disease	GAUCHER DISEASE TYPE II
Synonym	GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE
OMIM	230900 OMIM = Online Mendelian Inheritance of Men
Orphanet	77260
Protein (UniProt)	Glucosylceramidase
ExPASy	3.2.1.45
Gene locus	1q22
ICD	E75.2
Summary	rare (>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	Glucocerebrosidase dec (fibroblasts) Glucocerebrosidase dec (leucocytes) Glucosylceramidase dec (leucocytes)
Symptoms	anemia apnea cerebral atrophy cholestasis chorea or athetosis DNA dysphagia early death failure to thrive feeding difficulties, poor feeding hepatomegaly (large liver) hydrops fetalis hyperreflexia hypertonia, spasticity ichthyosis infections (severe or recurrent) mental retardation neurological deterioration neuropathy onset, childhood onset, infancy psychomotor retardation seizures splenomegaly (large spleen) strabismus swallowing difficulties thrombopenia, thrombocytopenia