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.

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 Mucopolysaccharidosis Type I Lipochondrodystrophy Lipochondrodystrophies Mucopolysaccharidosis 1 Hurler Syndrome Hurler Syndrome Syndrome, Hurler Hurler Disease Disease, Hurler Gargoylism Gargoylisms Hurler's Syndrome Hurlers Syndrome Syndrome, Hurler's Mucopolysaccharidosis Type Ih Mucopolysaccharidosis Type Ihs Type Ih, Mucopolysaccharidosis Type Ihs, Mucopolysaccharidosis Pfaundler-Hurler Syndrome Pfaundler Hurler Syndrome Syndrome, Pfaundler-Hurler Gargoylism, Hurler Syndrome Hurler Syndrome Gargoylism 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 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".