Mucopolysaccharidosis I
Synonyms
Disease, Hurler's
Gargoylism
Gargoylism, Hurler Syndrome
Gargoylisms
Hurler Disease
Hurler Scheie Syndrome
Hurler Syndrome
Hurler Syndrome Gargoylism
Hurler's Disease
Hurler's Syndrome
Hurler-Scheie Syndrome
Lipochondrodystrophies
Lipochondrodystrophy
Mucopolysaccharidosis 1
Mucopolysaccharidosis 5
Mucopolysaccharidosis I S
Mucopolysaccharidosis I-S
Mucopolysaccharidosis Is
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type Ih
Mucopolysaccharidosis Type Ih S
Mucopolysaccharidosis Type Ihs
Mucopolysaccharidosis Type Is
Mucopolysaccharidosis V
Pfaundler-Hurler Syndrome
Scheie Syndrome
Scheie's Syndrome
Syndrome, Hurler's
Syndrome, Scheie's
Type Ih, Mucopolysaccharidosis
Type Ihs, Mucopolysaccharidosis
alpha L Iduronidase Deficiency
alpha-L-Iduronidase Deficiencies
alpha-L-Iduronidase Deficiency
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.