G(M1)-GANGLIOSIDOSIS, TYPE III. CHRONIC/ADULT TYPE

Question 1

What is  G(M1)-GANGLIOSIDOSIS, TYPE III. CHRONIC/ADULT TYPE?

Accepted Answer

rare
autosomal recessive
- infantile form Type I
- late infantile/juvenile form Type II
- adult/chronic form Type III

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GM1-Gangliosidose Typ III; Beta-Galaktosidase 1-Mangel; adulte, chronische Form

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 230650

Question 4

Which enzymes are involved?

Accepted Answer

Beta galactosidase

Disease	G(M1)-GANGLIOSIDOSIS, TYPE III. CHRONIC/ADULT TYPE
Synonym	GANGLIOSIDOSIS, GENERALIZED GM1, TYPE III, OR ADULT TYPE
OMIM	230650 OMIM = Online Mendelian Inheritance of Men
Orphanet	354
Protein (UniProt)	Beta galactosidase
Gene locus	3p22.3
ICD	E75.1
Summary	rare autosomal recessive - infantile form Type I - late infantile/juvenile form Type II - adult/chronic form Type III
Laboratory findings	beta-Galactosidase dec (fibroblasts) beta-Galactosidase dec (leucocytes) Lymphocytes, vacuoles (blood)
Symptoms	ataxia corneal deposits dysarthria dysmorphism dystonia grimacing mental retardation MRI, brain, abnormalities [-] onset, adulthood onset, childhood Parkinsonism