G(M2)-GANGLIOSIDOSIS: GM2 ACTIVATOR DEFICIENCY

Question 1

What is  G(M2)-GANGLIOSIDOSIS: GM2 ACTIVATOR DEFICIENCY?

Accepted Answer

very rare
autosomal recessive
mutation in the GM2A gene
infantile acute form, indistinguishable from infantile Tay-Sachs or Sandhoff disease

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

GM2-Gangliosidose, AB-Variante; Hexosaminidase-Aktivator-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 272750

Question 4

Which enzymes are involved?

Accepted Answer

Ganglioside GM2 activator

Disease	G(M2)-GANGLIOSIDOSIS: GM2 ACTIVATOR DEFICIENCY
Synonym	TAY-SACHS DISEASE, AB VARIANT; G(M2)-GANGLIOSIDOSIS WITH HEXOAMINIDASE A DEFICIENCY
OMIM	272750 OMIM = Online Mendelian Inheritance of Men
Orphanet	309246
Protein (UniProt)	Ganglioside GM2 activator
Gene locus	5q33.1 Detail information to gene locus by the National Center for Biotechnology Information NCBI: GM2 ganglioside activator protein
ICD	E75.0
Summary	very rare autosomal recessive mutation in the GM2A gene infantile acute form, indistinguishable from infantile Tay-Sachs or Sandhoff disease
Laboratory findings	Oligosaccharides inc (urine) GM2 activator protein dec (fibroblasts) L-Pyroglutamic acid (5-Oxoproline) inc (urine)
Symptoms	blindness, visual loss, visual impairment cherry-red spot on retinal macula early death EEG abnormalities [-] hypertonia, spasticity hypotonia lethargy, drowsiness, apathy macrocephaly (large calvaria, >2 SD for age) mental retardation onset, infancy progressive neurologic defect seizures speech difficulties