2019 ICD-10-CM Diagnosis Code E71.0

Maple-syrup-urine disease

    2016 2017 2018 2019 Billable/Specific Code
  • E71.0 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.
  • The 2019 edition of ICD-10-CM E71.0 became effective on October 1, 2018.
  • 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
Annotation Back-References
In this context, annotation back-references refer to codes that contain:
  • Applicable To annotations, or
  • Code Also annotations, or
  • Code First annotations, or
  • Excludes1 annotations, or
  • Excludes2 annotations, or
  • Includes annotations, or
  • Note annotations, or
  • Use Additional annotations
that may be applicable to E71.0:
  • E00-E89
    2019 ICD-10-CM Range E00-E89

    Endocrine, nutritional and metabolic diseases

    Note
    • All neoplasms, whether functionally active or not, are classified in Chapter 2. Appropriate codes in this chapter (i.e. E05.8, E07.0, E16-E31, E34.-) may be used as additional codes to indicate either functional activity by neoplasms and ectopic endocrine tissue or hyperfunction and hypofunction of endocrine glands associated with neoplasms and other conditions classified elsewhere.
    Type 1 Excludes
    • transitory endocrine and metabolic disorders specific to newborn (P70-P74)
    Endocrine, nutritional and metabolic diseases
  • E70-E88
    2019 ICD-10-CM Range E70-E88

    Metabolic disorders

    Type 1 Excludes
    • androgen insensitivity syndrome (E34.5-)
    • congenital adrenal hyperplasia (E25.0)
    • Ehlers-Danlos syndrome (Q79.6)
    • hemolytic anemias attributable to enzyme disorders (D55.-)
    • Marfan's syndrome (Q87.4)
    • 5-alpha-reductase deficiency (E29.1)
    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 v36.0):
  • 642 Inborn and other disorders of metabolism

Convert E71.0 to ICD-9-CM

Code 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
Code annotations containing back-references to E71.0:
  • Type 1 Excludes: E72
    ICD-10-CM Diagnosis Code E72

    Other disorders of amino-acid metabolism

      2016 2017 2018 2019 Non-Billable/Non-Specific Code
    Type 1 Excludes
    • disorders of:
    • aromatic amino-acid metabolism (E70.-)
    • branched-chain amino-acid metabolism (E71.0-E71.2)
    • fatty-acid metabolism (E71.3)
    • purine and pyrimidine metabolism (E79.-)
    • gout (M1A.-, M10.-)

Diagnosis Index entries containing back-references to E71.0:
  • Disease, diseased - see also Syndrome
    • maple-syrup-urine E71.0
  • Disorder (of) - see also Disease
    • metabolism NOS E88.9
      ICD-10-CM Diagnosis Code E88.9

      Metabolic disorder, unspecified

        2016 2017 2018 2019 Billable/Specific Code
      • amino-acid E72.9
        ICD-10-CM Diagnosis Code E72.9

        Disorder of amino-acid metabolism, unspecified

          2016 2017 2018 2019 Billable/Specific Code
        • branched chain E71.2
          ICD-10-CM Diagnosis Code E71.2

          Disorder of branched-chain amino-acid metabolism, unspecified

            2016 2017 2018 2019 Billable/Specific Code
          • maple syrup urine disease E71.0
  • Maple-syrup-urine disease E71.0
  • Menkes' disease or syndrome E83.09
    ICD-10-CM Diagnosis Code E83.09

    Other disorders of copper metabolism

      2016 2017 2018 2019 Billable/Specific Code
    Applicable To
    • Menkes' (kinky hair) (steely hair) disease
    • meaning maple-syrup-urine disease E71.0
  • Syndrome - see also Disease
    • maple-syrup-urine E71.0

ICD-10-CM Codes Adjacent To E71.0
E70.339 …… unspecified
E70.39 Other specified albinism
E70.4 Disorders of histidine metabolism
E70.40 …… unspecified
E70.41 Histidinemia
E70.49 Other disorders of histidine metabolism
E70.5 Disorders of tryptophan metabolism
E70.8 Other disorders of aromatic amino-acid metabolism
E70.9 Disorder of aromatic amino-acid metabolism, unspecified
E71 Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism
E71.0 Maple-syrup-urine disease
E71.1 Other disorders of branched-chain amino-acid metabolism
E71.11 Branched-chain organic acidurias
E71.110 Isovaleric acidemia
E71.111 3-methylglutaconic aciduria
E71.118 Other branched-chain organic acidurias
E71.12 Disorders of propionate metabolism
E71.120 Methylmalonic acidemia
E71.121 Propionic acidemia
E71.128 Other disorders of propionate metabolism
E71.19 Other disorders of branched-chain amino-acid metabolism

Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes.