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Summary
MUCOPOLYSACCHARIDOSIS II. HUNTER SYNDROME
309900
OMIM = Online Medalian Inheritance of Men
580
Xq28

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • bone marrow transplantation
  • hemopoietic stem cell transplantation
1:70000 (Israel)
X-linked recessive
2 types:
- type A (severe)
- type B (mild)
symptoms
behavior, hyperactive, restless
cardiomyopathy
carpal tunnel syndrome
coarse facial features
contractures, joints
coronary heart disease
diarrhea
dwarfism
dysmorphism
dysostosis multiplex
early death
growth retardation
hearing defect, deafness
hepatomegaly (large liver)
hydrocephalus
hypertrichosis
infections (severe or recurrent)
inguinal hernia
joint stiffness
macrocephaly (large calvaria, >2 SD for age)
mental retardation
neurological deterioration
obstructive airway disease
retinal or macular degeneration
short stature
skin, abnormal
skin, thickened
splenomegaly (large spleen)
thick or large lips
X-ray, abnormalities
laboratory finding
Dermatan sulfate0.000.00 increasedurineno data
Heparan sulfate0.000.00 increasedurineno data
Iduronide-2-sulfate sulfatase decreased activityfibroblasts
Mucopolysaccharides0.000.00 increasedurineno data
Literature
Holme ELindstedt S Diagnosis and management of tyrosinemia type ICurr Opin Pediatr76726-7321995
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Kobayashi Ket al.A search for the primary abnormality in adult-onset type II citrullinemiaAm J Hum Genet5351024-10301993
Schuelke Met al.Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsyNat Genet213260-2311999
Croffie JMGupta SK, Chong SK, Fitzgerald JF Tyrosinemia type 1 should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failurePediatrics1033675-6781999
Cerone RHolme E, Schiaffino MC, Caruso U, Maritano L, Romano CTyrosinemia type III: diagnosis and ten-year follow-upActa Paediatr8691013-10151997