E76.0

Clinical Information

• Autosomal recessive systemic lysosomal storage disease caused by a deficiency of alpha-l-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.

• Inborn mucopolysaccharide metabolism disorder with alpha-l-iduronidase deficiency in leukocytes and fibroblasts and abnormal mucopolysaccharide incorporation and degradation by fibroblasts. Three types are recognized. All three types have similar laboratory findings, except that the fibroblasts in mps-i-h are heat-stable, whereas in mps-i-s they are heat-labile. Otherwise, the distinction is mainly clpinical. Johnie mcl was the patient in whom the syndrome was observed, hence the synonym johnie mcl syndrome.mucopolysaccharidosis mps) i-h synonyms: hurler syndrome gargoylism) the most severe of the three types with coarse gargyloid) facies, accelerated growth from infancy followed by progressive decline in the rate of development, mental retardation, dysostosis multiplex, corneal clouding, and death before the age of 10 years because of pneumonia and heart failure. Some symptoms hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during the second year of life.mucopolysaccharidosis mps) i-s synonyms: scheie syndrome late hurler syndrome forme fruste of hurler syndrome ullrich-scheie syndrome spat-hurler syndrome a more moderate form which is marked by corneal opacities, clawhand, aortic valve disease, normal stature, mild or absent intellectual impairment, and nearly normal life span, depending on cardiac complications. The condition is seldom recognized during infancy or early childhood.mucopolysaccharidosis mps) h/i-s synonyms: hurler-scheie syndrome, phenotype, compound, genetic compound, or syndrome an intermediate form between hurler and scheie syndromes, including short stature, dysostosis multiplex, hepatosplenomegaly, corneal clouding, umbilical or inguinal hernia, generally normal mental development with psychotic symptoms later in life, and death by age 25 years. The symptoms usually become apparent by the age of two years.

• 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.

• The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form hurler syndrome) and the mildest form scheie syndrome).

Details

• E76.0 should not be used for reimbursement purposes as there are multiple codes below it that contain a greater level of detail.

• The 2023 edition of ICD-10-CM E76.0 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E76.0 – other international versions of ICD-10 E76.0 may differ.