Mucopolysaccharidosis IV

Mukopolysackaridos IV

Svensk definition

Genetiskt orsakad rubbning i mukopolysackaridomsättningen, kännetecknad av skelettmissbildningar, instabila leder, myelopati i nacken och onormalt stor utsöndring av keratansulfat i urinen. Det finns två biokemiskt distinkta former, beroende på olika enzymbrister.

Engelsk definition

Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.

Svenska synonymer

Morquios sjukdom GALNS-brist Galaktosamin-6-sulfatasbrist

Engelska synonymer

Eccentro-Osteochondrodysplasia Eccentro Osteochondrodysplasia Eccentro-Osteochondrodysplasias Eccentroosteochondrodysplasia Eccentroosteochondrodysplasias Morquio Disease Disease, Morquio Morquio Syndrome Morquio Syndromes Syndrome, Morquio Syndromes, Morquio Morquio's Disease Disease, Morquio's Morquios Disease Morquio's Syndrome Morquios Syndrome Syndrome, Morquio's Mucopolysaccharidosis 4 Mucopolysaccharidosis Type IV IV, Mucopolysaccharidosis Type IVs, Mucopolysaccharidosis Type Mucopolysaccharidosis Type IVs Type IV, Mucopolysaccharidosis Type IVs, Mucopolysaccharidosis Mucopolysaccharidosis Type IV A Galactosamine-6-Sulfatase Deficiency Deficiencies, Galactosamine-6-Sulfatase Deficiency, Galactosamine-6-Sulfatase Galactosamine-6-Sulfatase Deficiencies Galactosamine 6 Sulfatase Deficiency Mucopolysaccharidosis Type IVA Morquio Syndrome A Syndrome A, Morquio MPS IV A MPS IVA Morquio A Disease Disease, Morquio A Mucopolysaccharidosis Type IV B Morquio B Syndrome Syndrome, Morquio B Morquio Syndrome B Morquio Syndrome, Type B Morquio's Disease Type B Morquio-B Disease Disease, Morquio-B Morquio B Disease MPS IV B MPS IVB Mucopolysaccharidosis 4B Mucopolysaccharidosis 4Bs Mucopolysaccharidosis Type IVB Mucopolysaccharidosis Type IVBs GALNS Deficiency Deficiencies, GALNS Deficiency, GALNS GALNS Deficiencies