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Summary
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE II: , KANZAKI DISEASE
ALPHA-GALACTOSIDASE B ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY
609242
OMIM = Online Medalian Inheritance of Men
79280
22q13.2
  • no specific treatment
rare
autosomal recessive
mutation in the gene encoding alpha-N-galactosaminidase
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
symptoms
angiokeratoma
cardiomegaly
coarse facial features
hearing defect, deafness
hyperkeratosis
lymyphedema
mental retardation
muscle weakness
onset, adult
peripheral neuropathy
skin, abnormal
vertigo, dizziness
laboratory finding
alpha-N-Acetylgalactosaminidase 10.7028.50decreased activityplasma
alpha-N-Acetylgalactosaminidase 94.30260.00decreased activityfibroblasts
alpha-N-Acetylgalactosaminidase 21.7062.90decreased activitylymphoblasts
Oligosaccharides increasedurine
Glycopeptides increasedurine
Lymphocytes, vacuoles blood
Literature
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Takita HBlue diaper syndromeRyoikibetsu Shokogun Shirizu192574-5751998
Leshinsky-Silver Eet al.Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 geneBiochem Biophys Res Commun3342582-5872005
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Campos Yet al.Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNAMuscle Nerve190187-1901996
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Campos Yet al.Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNAMuscle Nerve190187-1901996
Fabrizi GMet al.The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndromeJ Neurol Neurosurg Psychiatry61047-511996