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Summary
MUCOPOLYSACCHARIDOSIS VI MAROTEAUX-LAMY SYNDROME
MPS6
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
apnea
blindness, visual loss, visual impairment
cardiomegaly
cardiomyopathy
carpal tunnel syndrome
coarse facial features
contractures, joints
corneal clouding
corneal deposits
dysmorphism
dysostosis multiplex
glaucoma
growth retardation
hearing defect, deafness
heart failure
hepatomegaly (large liver)
hirsutism
hydrocephalus
hypertrichosis
infections (severe or recurrent)
inguinal hernia
joint stiffness
macrocephaly (large calvaria, >2 SD for age)
macroglossia, large/protuding tongue
myelopathy
onset, childhood
short stature
skin, thickened
skoliosis, kyphoskoliosis
splenomegaly (large spleen)
umbilical hernia
valvular heart disease
X-ray, abnormalities
laboratory finding
N-Acetylgalactosamin-4-sulfate sulfatase 100.00decreased activityfibroblasts
Dermatan sulfate0.000.00 increasedurineno data
Mucopolysaccharides0.000.00 increasedurineno data
Glycosaminoglycans, total increasedurine
Literature
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Tatuch Yet al.Heteroplasmic mtDNA mutation T8993G can cuase Leigh disease when the percentage of abnormal mtDNA is highAm J Hum Genet500852-8581992
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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
Kraoua I,et al.3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.Neuropediatrics445281-2852013
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
Esaki K,et al.L-Serine Deficiency Elicits Intracellular Accumulation of Cytotoxic Deoxysphingolipids and Lipid Body FormationJ Biol Chem2902314595-15602015
Wijemanne S,Jankovic JDopa-responsive dystonia--clinical and genetic heterogeneityNat Rev Neurol117414-4242015
Rabier Det al.Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?J Inherit Metab Dis210216-2191998
Nagy T,et al.Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemiaMutat Res772010-142015
Wang Q,et al.Long-term follow-up evaluation of an acatalasemia boy with severe periodontitisClin Chim Acta433093-952014
Tokatli Aet al.Biotinidase deficiency with neurological features resembling multiple sclerosisJ Inherit Metab Dis200707-7081997