2025 ICD-10-CM Diagnosis Code E71.0

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Maple-syrup-urine disease

  • E71.0 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.
  • The 2025 edition of ICD-10-CM E71.0 became effective on October 1, 2024.
  • This is the American ICD-10-CM version of E71.0 – other international versions of ICD-10 E71.0 may differ.

The following code(s) above E71.0 contain annotation back-references

 that may be applicable to E71.0:

  • E00-E89  Endocrine, nutritional and metabolic diseases
  • E70-E88  Metabolic disorders

Approximate Synonyms

  • Maple syrup urine disease

Clinical Information

  • An autosomal recessive inherited disorder caused by mutations in the bckdha, bckdhb, dbt, and dld genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.
  • An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (amino acids, branched-chain). These metabolites accumulate in body fluids and render a “maple syrup” odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (from Adams et al., Principles of Neurology, 6th ed, p936)
  • Autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids; metabolites accumulate in body fluids and render a “maple syrup” odor; divided into classic, intermediate, intermittent, and thiamine responsive subtypes; classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia; the intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting.

ICD-10-CM E71.0 is grouped within Diagnostic Related Group(s) (MS-DRG v42.0):

  • 642 Inborn and other disorders of metabolism

Convert E71.0 to ICD-9-CMCode History

  • 2016 (effective 10/1/2015): New code (first year of non-draft ICD-10-CM)
  • 2017 (effective 10/1/2016): No change
  • 2018 (effective 10/1/2017): No change
  • 2019 (effective 10/1/2018): No change
  • 2020 (effective 10/1/2019): No change
  • 2021 (effective 10/1/2020): No change
  • 2022 (effective 10/1/2021): No change
  • 2023 (effective 10/1/2022): No change
  • 2024 (effective 10/1/2023): No change
  • 2025 (effective 10/1/2024): No change

Code annotations containing back-references to E71.0:

  • Type 1 Excludes: E72

Diagnosis Index entries containing back-references to E71.0:

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