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Summary
MUCOPOLYSACCHARIDOSIS I-H HURLER SYNDROME
MPS1-H
607014
OMIM = Online Medalian Inheritance of Men
93473
4p16.3
  • bone marrow transplantation
  • enzyme replacement therapy
  • supportive/symptomatic therapy
rare (1:100.000)
autosomal recessive
symptoms
behavior, abnormal or bizarre, confusion
blindness, visual loss, visual impairment
cardiomyopathy
cardiomyopathy, dilated
coarse facial features
contractures, joints
corneal clouding
corneal deposits
diarrhea
dysmorphism
dysostosis multiplex
flat depressed nasal bridge (saddle nose)
glaucoma
hearing defect, deafness
hepatomegaly (large liver)
hirsutism
hydrocephalus
hydrops fetalis
hypertrichosis
infections (severe or recurrent)
inguinal hernia
joint stiffness
macrocephaly (large calvaria, >2 SD for age)
macroglossia, large/protuding tongue
mental retardation
mongolian spots
motor retardation
normal at birth
obstructive airway disease
onset, childhood
seizures
short stature
splenomegaly (large spleen)
umbilical hernia
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
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
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
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Raja V,Greenberg MLThe functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotypeChem Phys Lipids179049-562014
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
Carmi N,et al.Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleepEur J Paediatr Neurol196733-7362015