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Summary
MUCOPOLYSACCHARIDOSIS IV MORQUIO B SYNDROME
MPS4B
253010
OMIM = Online Medalian Inheritance of Men
309310
3p22.3
  • no specific treatment
  • supportive/symptomatic therapy
rare (1:300000)
autosomal recessive
Type A: severe form
Type B: milder form
symptoms
aortic valvular disease
coarse facial features
corneal deposits
dental caries
growth retardation
hearing defect, deafness
hepatomegaly (large liver)
hernia
hip dysplasia
infections (severe or recurrent)
inguinal hernia
kyphoskoliosis
liver involvement or dysfunction
myelopathy
onset, childhood
prominent lower face
restrictive lung disease
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
Capo-Chichi JM,et al.Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduriaJ Med Genet525303-3112015
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
Brassier A,et al.Two new cases of serine deficiency disorders treated with l-serineEur J Paediatr Neurol20153-602016