GANG(M1)-GANGLIOSIDOSIS, TYPE II. LIPIDOSIS, LATE INFANTILE SYSTEMIC

Question 1

What is  GANG(M1)-GANGLIOSIDOSIS, TYPE II. LIPIDOSIS, LATE INFANTILE SYSTEMIC?

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 II; Beta-Galaktosidase 1-Mangel; spät-infantile oder juvenile Form

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 230600

Question 4

Which enzymes are involved?

Accepted Answer

Beta galactosidase

Disease	GANG(M1)-GANGLIOSIDOSIS, TYPE II. LIPIDOSIS, LATE INFANTILE SYSTEMIC
Synonym	GLIOSIDOSIS, GENERALIZED GM1, TYPE II, OR JUVENILE TYPE
OMIM	230600 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) Foam cells, bone marrow (bone marrow) GM1-Ganglioside () Lymphocytes, vacuoles (blood) Oligosaccharides inc (urine)
Symptoms	blue histiocytes spastic diplegia/quadriplegia/tetraplegia ataxia cerebral atrophy early death gait disturbance mental retardation motor retardation muscular rigidity myoclonus optic atrophy seizures CT, brain, abnormalities [-] feeding difficulties, poor feeding infections (severe or recurrent) MRI, brain, abnormalities [-] neurological deterioration neutropenia (decreased neutrophils) onset, infancy progressive neurologic defect pyramidal signs X-ray, abnormalities