E76.01
BillableHurler's syndrome
HCC Category Mapping
V28HCC 49 — Lysosomal Storage Disorders
0.226V24HCC 23 — Other Significant Endocrine and Metabolic Disorders
0.230ESRDHCC 23 — Other Significant Endocrine and Metabolic Disorders
0.000RxHCCHCC 41 — Lysosomal Storage Disorders
0.000What This Code Means
A severe inherited metabolic disorder (mucopolysaccharidosis type I) where the body cannot break down certain complex sugars, causing progressive damage to multiple organs including the heart, bones, and brain.
Coding Tips
- •Document the age of onset and severity to support medical necessity for specialized treatments
- •Code associated complications such as cardiac valve disease, skeletal abnormalities, or developmental delay separately
Clinical Significance
Hurler syndrome (mucopolysaccharidosis type I-H) is a severe, progressive lysosomal storage disorder caused by deficiency of alpha-L-iduronidase, leading to accumulation of dermatan sulfate and heparan sulfate. It is the most severe form of MPS I, with life-threatening cardiac, skeletal, and neurological complications typically requiring hematopoietic stem cell transplant or enzyme replacement therapy.
Documentation Requirements
- ✓Specific diagnosis of Hurler syndrome (MPS I-H) as distinct from Hurler-Scheie or Scheie variants
- ✓Confirmatory enzyme assay showing alpha-L-iduronidase deficiency or genetic testing with IDUA gene mutation
- ✓Current disease manifestations: cardiac (valvular disease), skeletal (dysostosis multiplex), neurological (cognitive decline), corneal clouding
- ✓Treatment status: enzyme replacement therapy (laronidase), hematopoietic stem cell transplant history, or supportive care
- ✓Functional status assessment and disease progression documentation
Commonly Confused Codes
E76.02 — Hurler-Scheie syndrome: intermediate MPS I phenotype, less severe than HurlerE76.03 — Scheie's syndrome: mildest MPS I form with normal intelligence and longer survivalE76.1 — Mucopolysaccharidosis type II (Hunter syndrome): different enzyme deficiency (iduronate-2-sulfatase), X-linkedE76.3 — Mucopolysaccharidosis, unspecified: use only when the specific MPS type is not documentedE76.29 — Other mucopolysaccharidoses: for MPS types not individually coded (e.g., MPS VI Maroteaux-Lamy, MPS VII Sly)