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Summary
MUCOPOLYSACCHARIDOSIS VI. MAROTEAUX-LAMY SYNDROME
253200
OMIM = Online Medalian Inheritance of Men
583
5p14.1
  • bone marrow transplantation
  • enzyme replacement therapy
  • no specific treatment
  • supportive/symptomatic therapy
rare (1:43.000 - 1:1.500.000)
autosomal recessive
symptoms
blindness, visual loss, visual impairment
cardiomegaly
cardiomyopathy
carpal tunnel syndrome
coarse facial features
contractures, joints
corneal deposits
dysmorphism
dysostosis multiplex
growth retardation
hearing defect, deafness
heart failure
hepatomegaly (large liver)
hydrocephalus
hypertrichosis
kyphoskoliosis
myelopathy
onset, childhood
short stature
skin, thickened
splenomegaly (large spleen)
umbilical hernia
X-ray, abnormalities
laboratory finding
N-Acetylgalactosamin-4-sulfate sulfatase 100.00decreased activityfibroblasts
Dermatan sulfate0.000.00 increasedurineno data
Mucopolysaccharides0.000.00 increasedurineno data
Literature
Tatuch Yet al.Heteroplasmic mtDNA mutation T8993G can cuase Leigh disease when the percentage of abnormal mtDNA is highAm J Hum Genet500852-8581992
Garavaglia Bet al.Muscle cytochrome c oxidase deficiency in two italian patients with ethylmalonic aciduria and peculiar clinical phenotypeJ Inherit Metab Dis170301-3031994
Gibson KMFeigenbaum ASJPhenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (+ƒ-keto)thiolase deficiencyJ Inherit Metab Dis200712-7131997
Strauss AWet al.Inherited long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and a fetal-maternal interaction cause maternal liver disease and other pregnancy complicationsSemin Perinatol232100-1121999
Steinberg SJFensom AH, Dalton NR, Toseland PA, Kennedy CR, Mowat APMeasurement of Plasma Very Long-Chain Fatty Acids as a Preliminary Screening Procedure for the Diagnosis of Peroxysomal DisordersJ Inher Metab Dis170323-3261994
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Rabier Det al.Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?J Inherit Metab Dis210216-2191998
Tokatli Aet al.Biotinidase deficiency with neurological features resembling multiple sclerosisJ Inherit Metab Dis200707-7081997