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Summary
MUCOPOLYSACCHARIDOSIS I-S SCHEIE SYNDROME
MPS1-S
607016
OMIM = Online Medalian Inheritance of Men
93474
4p16.3
  • enzyme replacement therapy
rare (1:600.000)
autosomal recessive
mildest of the mucopolysaccharidoses
symptoms
aortic valvular disease
apnea
blindness, visual loss, visual impairment
carpal tunnel syndrome
coarse facial features
corneal clouding
corneal deposits
dysostosis multiplex
glaucoma
joint stiffness
myopathy
obstructive airway disease
onset, childhood
retinitis pigmentosa
laboratory finding
Dermatan sulfate0.000.00 increasedurineno data
Heparan sulfate0.000.00 increasedurineno data
alpha-Iduronidase decreased activityfibroblasts
Mucopolysaccharides0.000.00 increasedurineno data
Literature
Watkins DRosenblatt DSFunctional methionine synthase (cblE and cblG): clinical and biochemical heterogeneityAm J Med Genet340427-4341989
Yahalom G,et al.Costeff syndrome: clinical features and natural historyJ Neurol261122275-22822014
Sofer S,et al.The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndromeAm J Med Genet B Neuropsychiatr Genet1683197-2032015
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Rosenblatt DSet al.Altered vitamin B12 metabolism in fibroblasts from a patient with megaloblastic anaemia and homocystinuria due to a new defect in methionine biosynthesisJ Clin Invest7402149-21561984