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