G(M2)-GANGLIOSIDOSIS: VARIANT 0, SANDHOFF DISEASE

Question 1

What is  G(M2)-GANGLIOSIDOSIS: VARIANT 0, SANDHOFF DISEASE?

Accepted Answer

rare (1:300000)
autosomal recessive
mutation in the beta subunit of hexosaminidase
3 types:
- infantile, acute form (classical Sandhoff disease)
- subacute form
- chronic form

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GM2-Gangliosidose, Variante 0; Sandhoff-Krankheit; Hexosaminidase-A/B-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 268800

Question 4

Which enzymes are involved?

Accepted Answer

beta-hexosaminidase subunit beta

Disease	G(M2)-GANGLIOSIDOSIS: VARIANT 0, SANDHOFF DISEASE
Synonym	SANDHOFF DISEASE; G(M2)-GANGLIOSIDOSIS WITH HEXOSAMINIDASE A AND B DEFICIENCY
OMIM	268800 OMIM = Online Mendelian Inheritance of Men
Orphanet	796
Protein (UniProt)	beta-hexosaminidase subunit beta
Gene locus	5q13.3
ICD	E75.0
Summary	rare (1:300000) autosomal recessive mutation in the beta subunit of hexosaminidase 3 types: - infantile, acute form (classical Sandhoff disease) - subacute form - chronic form
Laboratory findings	beta-Hexosaminidase dec (serum) beta-Hexosaminidase dec (leucocytes) Oligosaccharides abn (urine)
Symptoms	ataxia blindness, visual loss, visual impairment cerebellar atrophy or hypoplasia cherry-red spot on retinal macula CT, brain, abnormalities [-] dysostosis multiplex early death hepatomegaly (large liver) hypotonia leukodystrophy macrocephaly (large calvaria, >2 SD for age) mental retardation MRI, brain, abnormalities [-] onset, adulthood onset, childhood onset, infancy optic atrophy seizures spastic diplegia/quadriplegia/tetraplegia