GAUCHER DISEASE TYPE III

Question 1

What is  GAUCHER DISEASE TYPE III?

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 3, Zerebrale Form der juvenilen und adulten Gaucher-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 231000

Question 4

Which enzymes are involved?

Accepted Answer

Glucosylceramidase

Disease	GAUCHER DISEASE TYPE III
Synonym	GAUCHER DISEASE, SUBACUTE NEURONOPATHIC TYPE
OMIM	231000 OMIM = Online Mendelian Inheritance of Men
Orphanet	77261
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	ataxia behavior, hyperactive, restless bone marrow abnormality cardiac involvement, cardiac defects dementia DNA extrapyramidal signs eye movements, abnormal hepatomegaly (large liver) infections (severe or recurrent) mental retardation motor retardation myoclonus neurological deterioration neuropathy onset, childhood seizures short stature spastic diplegia/quadriplegia/tetraplegia speech development, delayed, abnormal splenomegaly (large spleen) thrombopenia, thrombocytopenia