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Summary
MUCOPOLYSACCHARIDOSIS IX
MPS9 HYALURONIDASE DEFICIENCY
601492
OMIM = Online Medalian Inheritance of Men
67041
3p21.31
rare
autosomal recessive
symptoms
dysmorphism
hip dysplasia
infections (severe or recurrent)
joint effusions
multiple periarticular soft-tissue masses
onset, childhood
scoliosis
short stature
laboratory finding
Hyaluronan increasedurine
Glycosaminoglycans, total increasedurine
Literature
Glasgow JFet al.The mechanism of inhibition of beta-oxidation by aspirin metabolites in skin fibroblasts from Reyes syndrome patients and controlsBiochim Biophys Acta14541115-1251999
Stibler HStephani U, Kutsch UCarbohydrate-deficient glycoprotein syndrome - a fourth subtypeNeuropediatrics265235-2371995
Tatuch YRobinson BHThe mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblasts mitochondriaBiochem Biophys Res Commun920124-1281993