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

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE II: , KANZAKI DISEASE
ALPHA-GALACTOSIDASE B; ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY
609242
OMIM = Online Mendelian Inheritance of Men
79280
Alpha-N-acetylgalactosaminidase
3.2.1.49
22q13.2
E77.1
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