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Summary
MUCOPOLYSACCHARIDOSIS I-H. HURLER SYNDROME
MUCOPOLYSACCHARIDOSIS TYPE IH, MPS1-H
607014
OMIM = Online Medalian Inheritance of Men
93473
4p16.3
  • bone marrow transplantation
  • enzyme replacement therapy
  • supportive/symptomatic therapy
rare
1:100000
autosomal recessive
symptoms
blindness, visual loss, visual impairment
cardiomyopathy
cardiomyopathy, dilated
coarse facial features
contractures, joints
corneal clouding
corneal deposits
dysmorphism
dysostosis multiplex
flat depressed nasal bridge (saddle nose)
glaucoma
hepatomegaly (large liver)
hydrocephalus
hydrops fetalis
hypertrichosis
infections (severe or recurrent)
inguinal hernia
joint stiffness
macroglossia, large/protuding tongue
mental retardation
mongolian spots
motor retardation
normal at birth
obstructive airway disease
onset, childhood
short stature
splenomegaly (large spleen)
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
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Koene S,et al.Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 casesJ Inherit Metab Dis355737-7472012
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Shozu Met al.A new cause of female pseudohermaphroditism: placental aromatase deficiency J Clin Endocrinol Metab720560-5661991
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