Home Page

Orphanet

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 28-06-2011

Symbol	MANBA
Location	4q24
Name	mannosidosis beta
Other name(s)	lysosomal beta-mannosidase deficiency
Corresponding gene	MANBA
Main clinical features	rare lysosomal storage disease with accumulation of undegraded mannosyl-linked oligosaccharides in cells throughout the body, most notably in the CNS (PMID: 21157375)) progressive intellectual impairment, disturbed motor functions, and cerebellar atrophy a range of neurological involvement with mental retardation, angiokeratoma, facial dysmorphism, skeletal abnormalities
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lysosomal
Type	disease

Gene product

Name	mannosidase beta, lysosomal (MANBA)

Remark(s)

short-term enzyme replacement therapy partially reversed the observed cerebellar pathology with fewer activated macrophages and astrocytes but unchanged levels of hyperglycosylated NPC2, gangliosides, and cholesterol (PMID: 21157375))

Genotype/Phenotype correlations

missense mutation, c.1922G>A (p.Arg641His), identified in a patient was homozygous; this substitution does not totally abrogate the enzyme activity but led to a residual activity (PMID: 19728872 )