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Summary
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE I: SCHINDLER DISEASE
ALPHA-GALACTOSIDASE B ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCYNAGA DEFICIENCY, TYPE I
609241
OMIM = Online Medalian Inheritance of Men
3137
22q13.2
  • no specific treatment
rare
autosomal recessive
type I: Schindler disease, infantile onset neuroaxonal dystrophy
type II:Kanzaki disease, adult-onset peripheral neuroaxonal degeneration, angiokeratoma corporis diffusum and mild intellectual impairment may present as a non-disease (present healthy case) [Bakker HD et al. 2001]
type III: intermediate form
symptoms
blindness, visual loss, visual impairment
cataract
cerebellar atrophy or hypoplasia
cerebral atrophy
contractures, joints
decreased muscle volume, atrophy or hypoplasia
developmental delay
epilepsy
hyperreflexia
hypotonia
mental retardation
motor retardation
myoclonus
neurological deterioration
normal at birth
nystagmus
onset, childhood
onset, infancy
optic atrophy
seizures
strabismus
laboratory finding
CT, brain, abnormalities -
MRI, brain, abnormalities -
alpha-N-Acetylgalactosaminidase 21.7062.90decreased activitylymphoblasts
alpha-N-Acetylgalactosaminidase 21.7062.90decreased activityplasma
alpha-N-Acetylgalactosaminidase 21.7062.90decreased activityfibroblasts
Oligosaccharides increasedurine
Glycopeptides increasedurine
EEG abnormalities -
Literature
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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