Mucopolysaccharidosis I

Mukopolysackaridos I

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

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