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's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. Hunter syndrome (MUCOPOLYSACCHARIDOSIS II) and Hurler syndrome were each originally called "gargoylism" because of the coarseness of the facial features of affected individuals.

Descriptor ID	D008059
MeSH Number(s)	C16.320.565.202.715.640 C16.320.565.595.600.640 C17.300.550.575.640 C18.452.648.202.715.640 C18.452.648.595.600.640
Concept/Terms	Mucopolysaccharidosis I Mucopolysaccharidosis I Lipochondrodystrophy Lipochondrodystrophies Mucopolysaccharidosis 1 Gargoylism, Hurler Syndrome Gargoylism, Hurler Syndrome Hurler Syndrome Gargoylism Hurler Syndrome Syndrome, Hurler Pfaundler-Hurler Syndrome Pfaundler Hurler Syndrome Syndrome, Pfaundler-Hurler Hurler's Syndrome Hurlers Syndrome Syndrome, Hurler's Mucopolysaccharidosis Type Ih Mucopolysaccharidosis Type Ihs Type Ih, Mucopolysaccharidosis Type Ihs, Mucopolysaccharidosis Hurler Disease Disease, Hurler Hurler's Disease Disease, Hurler's Hurlers Disease Scheie Syndrome Scheie Syndrome Syndrome, Scheie Mucopolysaccharidosis I-S Mucopolysaccharidosis I S Scheie's Syndrome Syndrome, Scheie's Mucopolysaccharidosis Type Is Mucopolysaccharidosis Type I Type I, Mucopolysaccharidosis Type Is, Mucopolysaccharidosis Mucopolysaccharidosis V Mucopolysaccharidosis 5 Mucopolysaccharidosis IS alpha-L-Iduronidase Deficiency alpha-L-Iduronidase Deficiency Deficiencies, alpha-L-Iduronidase Deficiency, alpha-L-Iduronidase alpha L Iduronidase Deficiency alpha-L-Iduronidase Deficiencies Hurler-Scheie Syndrome Hurler-Scheie Syndrome Hurler Scheie Syndrome Syndrome, Hurler-Scheie Mucopolysaccharidosis Type Ih/S Mucopolysaccharidosis Type Ih/Ss Type Ih/S, Mucopolysaccharidosis Type Ih/Ss, Mucopolysaccharidosis

Below are MeSH descriptors whose meaning is more general than "Mucopolysaccharidosis I".

Below are MeSH descriptors whose meaning is related to "Mucopolysaccharidosis I".

Below are MeSH descriptors whose meaning is more specific than "Mucopolysaccharidosis I".