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Summary
MULTIPLE SULFATASE DEFICIENCY (MSD)
SULFATIDOSIS, JUVENILE, AUSTIN TYPE SULFATASE DEFICIENCY, MULTIPLE
272200
OMIM = Online Medalian Inheritance of Men
585
3p26.1
  • no specific treatment
  • supportive/symptomatic therapy
rare (>40 cases)
autosomal recessive
symptoms
blindness, visual loss, visual impairment
broad thumbs
cherry-red spot on retinal macula
corneal clouding
defect of walking, running, rising or climbing
dysmorphism
great toes
growth retardation
hearing defect, deafness
hepatomegaly (large liver)
ichthyosis
joint stiffness
motor retardation
neurological deterioration
onset, child
onset, newborn
optic atrophy
progressive neurologic defect
retinal or macular degeneration
seizures
skeletal changes
spastic diplegia/quadriplegia
swallowing difficulties
laboratory finding
Arylsulfatase A 100.00decreased/normalfibroblasts
Arylsulfatase B 100.00decreased/normalfibroblasts
Arylsulfatase C 100.00decreased/normalfibroblasts
Iduronide-2-sulfate sulfatase 100.00decreased/normalfibroblasts
Heparan-N-sulfamidase 100.00decreased/normalfibroblasts
N-Acetylgalactosamin-6-sulfate sulfatase 100.00decreased/normalfibroblasts
N-Acetylglucosamine-6-sulfate sulfatase 100.00decreased/normalfibroblasts
Protein, total, spinal fluid 10.0030.00increasedspinal fluid
Literature
Tamaru Yet al.alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxiaNeurology490584-5881997
Ledley FDet al.Benign methylmalonic aciduriaN Engl J Med31101015-10181984
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Koeberl DDet al.Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screeningJ Inherit Metab Dis26125-352003
Bashan NIancu TC, Lerner A, Fraser D, Potashnik R, Moses SWGlycogenosis due to liver and muscle phosphorylase kinase deficiencyPediat Res150299-3031981