ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE II: , KANZAKI DISEASE

Question 1

What is  ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE II: , KANZAKI DISEASE?

Accepted Answer

rare
autosomal recessive
mutation in the gene encoding alpha-N-galactosaminidase (NAGA)
type I: Schindler disease, infantile onset neuroaxonal dystrophy
type II:Kanzaki disease, adult-onset peripheral neuroaxonal degeneration, angiokeratoma corporis diffusum and mild intellectual impairment
type II: intermdiate form

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Alpha-N-Acetylgalactosaminidase-Mangel Typ 2; Kanzaki-Krankheit

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 609242

Question 4

Which enzymes are involved?

Accepted Answer

Alpha-N-acetylgalactosaminidase

Disease	ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE II: , KANZAKI DISEASE
Synonym	ALPHA-GALACTOSIDASE B; ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY
OMIM	609242 OMIM = Online Mendelian Inheritance of Men
Orphanet	79280
Protein (UniProt)	Alpha-N-acetylgalactosaminidase
ExPASy	3.2.1.49
Gene locus	22q13.2
ICD	E77.1
Summary	rare autosomal recessive mutation in the gene encoding alpha-N-galactosaminidase (NAGA) type I: Schindler disease, infantile onset neuroaxonal dystrophy type II:Kanzaki disease, adult-onset peripheral neuroaxonal degeneration, angiokeratoma corporis diffusum and mild intellectual impairment type II: intermdiate form
Laboratory findings	alpha-N-Acetylgalactosaminidase dec (plasma) alpha-N-Acetylgalactosaminidase dec (lymphoblasts) alpha-N-Acetylgalactosaminidase dec (fibroblasts) Glycopeptides inc (urine) Lymphocytes, vacuoles (blood) Oligosaccharides inc (urine)
Symptoms	angiokeratoma cardiomegaly coarse facial features hearing defect, deafness hyperkeratosis lymyphedema mental retardation muscle weakness onset, adulthood peripheral neuropathy skin, abnormal vertigo, dizziness