E76.29

Applicable To

• beta-Glucuronidase deficiency

• Maroteaux-Lamy mild) severe) syndrome

• Mucopolysaccharidosis, types VI, VII

Approximate Synonyms

• Maroteaux lamy syndrome

Clinical Information

• A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta-glucuronidase. It is characterized by hepatosplenomegaly, skeletal deformities, enlarged head, and mental retardation.

• An inborn error of metabolism characterized by beta-glucuronidase ec 3.2.1.31) deficiency with abnormal storage of mucopolysaccharides in various tissues. The phenotype consists mainly of short stature, hepatosplenomegaly, dysostosis multiplex, and mild mental retardation. Type i is the most severe with hydrops fetalis, coarse facies with hypertelorism and depressed nasal bridge, cloudy corneae, and onset of symptoms at birth. Type ii has a less severe course with moderate huurler facies and hypertelorism and onset at 2 to 3 years. Type iii has the mildest symptoms with onset during adolescence.

• Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and hurler-like features. It is caused by a deficiency of beta-glucuronidase.

Details

• E76.29 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E76.29 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E76.29 – other international versions of ICD-10 E76.29 may differ.