Svensk definition
Systemisk lysosomal inlagringssjukdom orsakad av brist på alfa-L-iduronidas (EC 3.2.1.76) och kännetecknad av fortskridande fysisk försämring, med utsöndring av dermatansulfat och heparinsulfat i urin. Det finns tre påvisade fenotyper som uppvisar ett kliniskt spektrum från svåra till lindriga symtom: Hurlers syndrom, Hurler-Scheies syndrom och Scheies syndrom (tidigare mukopolysackaridos V). Till symtomen kan höra dvärgväxt, hepatosplenomegali, gargoylism, hornhinnegrumling, hjärtbesvär och ljudlig andhämtning. Såväl Hunters syndrom (mukopolysackaridos II) och Hurlers syndrom kallades ursprungligen gargoylism pga de grova ansiktsdragen hos de drabbade.
Engelsk definition
Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.
Svenska synonymer
Hurlers syndrom — Hurler-Scheies syndrom — MPS I — Scheies syndrom — Hurlers sjukdom — Hurler-Scheies sjukdom — Scheies sjukdom — Alfa-L-iduronidasbrist — Lipokondrodystrofi
Engelska synonymer
Mucopolysaccharidosis Is — Mucopolysaccharidosis Type I — Mucopolysaccharidosis 1 — Lipochondrodystrophy — Lipochondrodystrophies — Hurler Syndrome — Hurler's Disease — Disease, Hurler's — Hurler's Syndrome — Syndrome, Hurler's — Gargoylism — Gargoylisms — Gargoylism, Hurler Syndrome — Hurler Syndrome Gargoylism — Mucopolysaccharidosis Type Ih — Mucopolysaccharidosis Type Ihs — Type Ih, Mucopolysaccharidosis — Type Ihs, Mucopolysaccharidosis — Hurler Disease — Pfaundler-Hurler Syndrome — Scheie Syndrome — Scheie's Syndrome — Syndrome, Scheie's — Mucopolysaccharidosis Type Is — Mucopolysaccharidosis I-S — Mucopolysaccharidosis I S — Mucopolysaccharidosis V — Mucopolysaccharidosis 5 — alpha-L-Iduronidase Deficiency — alpha L Iduronidase Deficiency — alpha-L-Iduronidase Deficiencies — Hurler-Scheie Syndrome — Hurler Scheie Syndrome — Mucopolysaccharidosis Type Ih S