Short answer · Medically reviewed summary · Last updated: 2026-05-08
Hurler Syndrome, clinically known as Mucopolysaccharidosis Type I-H (MPS1H), is classified under the ICD-10 code E76.01 (Hurler's syndrome) and the legacy ICD-9 code 277.5 (Mucopolysaccharidosis). These diagnostic codes are essential for healthcare providers and insurance systems to accurately identify the specific metabolic pathway affected in patients with this rare lysosomal storage disorder. What is the clinical significance of these codes for Hurler Syndrome? In the clinical management of Hurler Syndrome MPS1H, using the correct ICD-10 code (E76.01) is vital for ensuring access to specialized therapies, such as Hematopoietic Stem Cell Transplantation (HSCT) or Enzyme Replacement Therapy (ERT).
ICD10 code of Hurler Syndrome MPS1H and ICD9 code
ICD-10 and ICD-9 codes for Hurler Syndrome MPS1H, with classification details for clinicians, coders and patients.
Hurler Syndrome, clinically known as Mucopolysaccharidosis Type I-H (MPS1H), is classified under the ICD-10 code E76.01 (Hurler's syndrome) and the legacy ICD-9 code 277.5 (Mucopolysaccharidosis). These diagnostic codes are essential for healthcare providers and insurance systems to accurately identify the specific metabolic pathway affected in patients with this rare lysosomal storage disorder.
What is the clinical significance of these codes for Hurler Syndrome?
In the clinical management of Hurler Syndrome MPS1H, using the correct ICD-10 code (E76.01) is vital for ensuring access to specialized therapies, such as Hematopoietic Stem Cell Transplantation (HSCT) or Enzyme Replacement Therapy (ERT). Because Hurler Syndrome MPS1H is a severe form of MPS I, precise coding ensures that medical records accurately reflect the multisystemic nature of the disease, including skeletal abnormalities, hepatosplenomegaly, and cognitive impairment, which distinguish it from milder attenuated forms.
How is Hurler Syndrome MPS1H diagnosed?
Diagnosis of Hurler Syndrome MPS1H relies on a combination of clinical evaluation and biochemical testing. The process typically involves:
- Enzyme Assay: Measuring the activity of the alpha-L-iduronidase (IDUA) enzyme in white blood cells or fibroblasts, which is severely deficient or absent in Hurler Syndrome MPS1H.
- Urinary GAG Analysis: Testing for elevated levels of heparan sulfate and dermatan sulfate.
- Genetic Testing: Sequencing the IDUA gene to confirm the specific pathogenic variants, which is critical for family planning and carrier identification.
Is Hurler Syndrome MPS1H hereditary?
Yes, Hurler Syndrome MPS1H follows an autosomal recessive inheritance pattern. This means that for a child to be born with Hurler Syndrome MPS1H, both parents must be carriers of a pathogenic mutation in the IDUA gene. In such cases, there is a 25% chance with each pregnancy that the child will inherit the condition.
What support is available for the community?
At DiseaseMaps.org, we currently support a community of 7 individuals and families navigating the complexities of Hurler Syndrome MPS1H. Connecting with others who share this diagnosis can provide invaluable emotional support and practical guidance for managing long-term care coordination.
Next steps
- Consult with a metabolic geneticist to confirm diagnosis and review the latest clinical management guidelines.
- Coordinate care through a multidisciplinary team, including cardiologists, orthopedists, and neurologists.
- Join the MPS Society or the DiseaseMaps.org community to share experiences and access peer support.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always seek the advice of your physician or other qualified health provider.
References
- Orphanet: MPS1H (ORPHA:93465)
- NIH GARD: Mucopolysaccharidosis type I (GARD:7154)
- OMIM: Mucopolysaccharidosis Type IH (IDUA gene, #607014)
- National MPS Society: MPS I Disease Information
