G(M2)-GANGLIOSIDOSIS: VARIANT B, TAY-SACHS DISEASE

Question 1

What is  G(M2)-GANGLIOSIDOSIS: VARIANT B, TAY-SACHS DISEASE?

Accepted Answer

rare (1:320000 )
autosomal recessive
mutation in the alpha subunit of the hexosaminidase A gene
3 types:
- infantile, acute form (classical Tay-Sachs disease)
- subacute form
- chronic form

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GM2-Gangliosidose, Varianten B und B1; Tay-Sachs-Krankheit; Hexosaminidase A-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 272800

Question 4

Which enzymes are involved?

Accepted Answer

Beta-hexosaminidase subunit alpha

Disease	G(M2)-GANGLIOSIDOSIS: VARIANT B, TAY-SACHS DISEASE
Synonym	G(M2)-GANGLIOSIDOSIS WITH HEXOSAMINIDASE A DEFICIENCY
OMIM	272800 OMIM = Online Mendelian Inheritance of Men
Orphanet	845
Protein (UniProt)	Beta-hexosaminidase subunit alpha
Gene locus	15q23
ICD	E75.0
Summary	rare (1:320000 ) autosomal recessive mutation in the alpha subunit of the hexosaminidase A gene 3 types: - infantile, acute form (classical Tay-Sachs disease) - subacute form - chronic form
Laboratory findings	Hexosaminidase A dec (serum) Hexosaminidase A dec (fibroblasts) Hexosaminidase B normal/inc (fibroblasts) Oligosaccharides abn (urine)
Symptoms	ataxia blindness, visual loss, visual impairment cherry-red spot on retinal macula CT, brain, abnormalities [-] dysostosis multiplex encephalopathy hepatomegaly (large liver) hypotonia infections (severe or recurrent) macrocephaly (large calvaria, >2 SD for age) mental retardation myoclonus onset, adolescent onset, childhood onset, infancy psychosis seizures spastic diplegia/quadriplegia/tetraplegia