E76.1

Mucopolysaccharidosis, type II

A syndrome with variable manifestations exhibiting mainly microcephaly, characteristic facies, mental retardation, short stature, acral skeletal anomalies with occasional craniosynostosis and congenital heart defects.

An inborn mucopolysaccharide metabolism disorder with iduronate-2-sulfatase deficiency. Clinical characteristics are similar to those in mps i, except for the absence of corneal clouding and slower progression of the course of disease and central nervous system deterioration. Retinal degeneration may occur, but the cornea usually remains clear. Appearance is normal at birth with excessive growth taking place during first two years of life. Two types are recognized: a severe form mps iia) which is characterized mainly by mental retardation and progressive physical deterioration and early death, and a mild form mps iib) in which patients may survive into adulthood. Mps iia usually occurs between 2 and 4 years of age with progressive deterioration, chronic diarrhea, recurrent ear infections, hearing impairment, communicating hydrocephalus with increased intracranial pressure, and death at about 10 and 15 years. Obstructive airway disease, cardiac valvular dysfunction, myocardial thickening, pulmonary hypertension, coronary disease, and myocardial infarction may be superimposed. Mps iib is milder with preservation of intelligence. The symptoms usually include hearing impairment, carpal tunnel syndrome, joint stiffness, discrete corneal opacities, and papilledema. Death may occur in early adulthood, usually from airway obstruction or cardiac failure.

An x-linked, inherited lysosomal storage disease caused by the deficiency of the enzyme iduronate sulfatase that is responsible for the degradation of mucopolysaccharides. It nearly always affects males and is characterized by the accumulation of mucopolysaccharides in various organs, resulting in mental dysfunction, enlarged abdomen, hearing loss, obstructive airway disease, heart disease, and hepatosplenomegaly.

Lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of l-sulfoiduronate sulfatase; this disease differs from muchopolysaccharidosis i by slower progression, lack of corneal clouding, and x-linked rather than autosomal recessive inheritance.

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.

E76.1 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

This is the American ICD-10-CM version of E76.1 – other international versions of ICD-10 E76.1 may differ.