Clinical Terms for Disorders of glycosaminoglycan metabolism (E76)
Mucopolysaccharidosis I-. 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.
Mucopolysaccharidosis II-. Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.
Mucopolysaccharidosis IV-. Genetic disorder of mucopolysaccharide metabolism characterized by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme.
Endocrine, nutritional and metabolic diseases (E00–E90)
Metabolic disorders (E70-E88)
- E76 - Disorders of glycosaminoglycan metabolism NON-BILLABLE CODE
- E76.0 - Mucopolysaccharidosis, type I NON-BILLABLE CODE
- E76.01 - Hurler's syndrome BILLABLE CODE
- E76.02 - Hurler-Scheie syndrome BILLABLE CODE
- E76.03 - Scheie's syndrome BILLABLE CODE
- E76.1 - Mucopolysaccharidosis, type II BILLABLE CODE
- E76.2 - Other mucopolysaccharidoses NON-BILLABLE CODE
- E76.21 - Morquio mucopolysaccharidoses NON-BILLABLE CODE
- E76.210 - Morquio A mucopolysaccharidoses BILLABLE CODE
- E76.211 - Morquio B mucopolysaccharidoses BILLABLE CODE
- E76.219 - Morquio mucopolysaccharidoses, unspecified BILLABLE CODE
- E76.22 - Sanfilippo mucopolysaccharidoses BILLABLE CODE
- E76.29 - Other mucopolysaccharidoses BILLABLE CODE
- E76.3 - Mucopolysaccharidosis, unspecified BILLABLE CODE
- E76.8 - Other disorders of glucosaminoglycan metabolism BILLABLE CODE
- E76.9 - Glucosaminoglycan metabolism disorder, unspecified BILLABLE CODE
Disorders of glycosaminoglycan metabolism (E76)