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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 (~50 cases)
autosomal recessive
symptoms
apnea
ataxia
blindness, visual loss, visual impairment
broad thumbs
cerebellar atrophy or hypoplasia
cerebral atrophy
cherry-red spot on retinal macula
coarse facial features
corneal clouding
cyanosis
defect of walking, running, rising or climbing
dysmorphism
dysostosis multiplex
gait disturbance
great toes
growth retardation
hearing defect, deafness
hepatomegaly (large liver)
hydrocephalus
hypotonia
ichthyosis
joint stiffness
leukodystrophy
mental retardation
motor retardation
myelination, incomplete, hypomyelination
neurological deterioration
onset, childhood
onset, infancy
onset, neonatal
optic atrophy
progressive neurologic defect
retinal or macular degeneration
seizures
short stature
skeletal changes, skeletal abnormalities
spastic diplegia/quadriplegia
splenomegaly (large spleen)
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 10.0030.00increasedcerebrospinal fluid
Glycosaminoglycans, total increasedurine
Taurocholic acid increasedurine
Literature
Garone C,et al.Mitochondrial encephalomyopathy due to a novel mutation in ACAD9JAMA Neurol7091177-11792013
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
Porta F,et al.Newborn screening for galactosemia: a 30-year single center experienceWorld J Pediatr112160-1642015
Frey PA,Hegeman ADChemical and stereochemical actions of UDP-galactose 4-epimeraseAcc Chem Res4671417-14262013
Lai K,Boxer MB, Marabotti AGALK inhibitors for classic galactosemiaFuture Med Chem691003-10152014
Van Calcar SC,et al.A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemiaMol Genet Metab1123191-1972014
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Nouws J,et al.ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficienciesHum Mol Genet2351311-13192014
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