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Summary
MUCOPOLYSACCHARIDOSIS IV. MORQUIO B SYNDROME
MUCOPOLYSACCHARIDOSIS IVB
253010
OMIM = Online Medalian Inheritance of Men
582
3p22.3
  • no specific treatment
  • supportive/symptomatic therapy
rare (1:300000)
autosomal recessive
Type A: severe form
Type B: milder form
symptoms
corneal deposits
growth retardation
hearing defect, deafness
hepatomegaly (large liver)
hernia
hip dysplasia
infections (severe or recurrent)
kyphoskoliosis
prominent lower face
short neck
short stature
short trunk
X-ray, abnormalities
laboratory finding
Keratan sulfate0.000.00 increasedurineno data
beta-Galactosidase decreased activityfibroblasts
Mucopolysaccharides0.000.00 increasedurineno data
Literature
Hou JWWang TRTransient tyrosinemia presenting as lactic acidosis in a term baby: report of one caseChung Hua Min Kuo Hsiao Erh Ko I Hsueh Hui Tsa Chih363217-2201995
Gillingham Met al.Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and surveyJ Inherit Metab Dis222123-1311999
Morton NSArana AParacetamol-induced fulminant hepatic failure in a child after 5 days of therapeutic dosesPaediatr Anaesth95463-4651999
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Tyni TPihko HLong-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyActa Paediatr883237-2451999
Riely CAAcute hepatic failure in childrenYale J Biol Med 572181-1841984