2026 ICD-10-CM Diagnosis Code E71.0Maple-syrup-urine disease

ICD-10-CM Codes›E00–E89›E70-E88›E71

ICD-10-CM E71.0
CMSSource: CMS FY 2026 ICD-10-CM dataset · Effective Oct 1, 2025 – Sep 30, 2026

E71.0 is a billable ICD-10-CM diagnosis code for maple-syrup-urine disease. It is valid on HIPAA claims for fiscal year 2026 (October 1, 2025 through September 30, 2026). Coders also document this condition as classical maple syrup urine disease. In AHRQ's Clinical Classifications Software (CCSR), this diagnosis falls under Other specified and unspecified nutritional and metabolic disorders.

Code Identity

ICD-10-CM Code
E71.0
Billable Status
Yes — Valid for Submission
Code Describes
Maple-syrup-urine disease
Short Description
Maple-syrup-urine disease
Same as the full description in the CMS dataset.
Parent Code
E71
Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism

Code Classification

ChapterE00–E89Endocrine, nutritional and metabolic diseases
SectionE70-E88Metabolic disorders
CategoryE71Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism
This CodeE71.0Maple-syrup-urine disease

Approximate SynonymsGuidance

Alternate terms and clinical phrases that map to this code.

  • Classical maple syrup urine disease
  • Dihydrolipoamide dehydrogenase deficiency
  • Intermediate maple syrup urine disease
  • Intermittent maple syrup urine disease
  • Maple syrup urine disease
  • Maple syrup urine disease, multiple dehydrogenase form
  • Mild maple syrup urine disease
  • Thiamin-responsive maple syrup urine disease

Index to Diseases and InjuriesGuidance

Alphabetical index entries that point to this code.

External Cause of Injuries IndexGuidance

References for this code in the External Cause of Injuries Index.

    • Disease, diseased
      • maple-syrup-urine
    • Disorder(of)
      • metabolism NOS
        • amino-acid
          • branched chain
            • maple syrup urine disease
    • Maple-syrup-urine disease
    • Menkes' disease or syndrome
      • meaning maple-syrup-urine disease
    • Syndrome
      • maple-syrup-urine

Clinical ClassificationClinical

AHRQ’s CCSR groups this code into broader clinical categories.

CCSR END016
Other specified and unspecified nutritional and metabolic disorders
Default principal diagnosis: inpatient Yes · outpatient Yes

Clinical InformationClinical

  • Maple Syrup Urine Disease

    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)

  • BCKDHA wt Allele|2-Oxoisovalerate Dehydrogenase (Lipoamide) Gene|BCKD, E1-Alpha Subunit Gene|BCKDE1A|Branched Chain Keto Acid Dehydrogenase E1 Alpha Protein Gene|Branched Chain Keto Acid Dehydrogenase E1 Subunit Alpha wt Allele|Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide (Maple Syrup Urine Disease) Gene|Branched Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide Gene|Branched-Chain Keto Acid Dehydrogenase E1, Alpha Polypeptide Gene|MSU|MSUD1|MSUD1A|Maple Syrup Urine Disease Gene|OVD1A

    human bckdha wild-type allele is located in the vicinity of 19q13.2 and is approximately 27 kb in length. this allele, which encodes 2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial protein, is involved in the metabolism of branched-chain amino acids. mutation of the gene is associated with maple syrup urine disease 1a.

  • BCKDHB wt Allele|2-Oxoisovalerate Dehydrogenase (Lipoamide) Gene|BCKD, E1-Beta Subunit Gene|BCKDE1B|Branched Chain Alpha-Ketoacid Dehydrogenase E1-Beta Subunit Gene|Branched Chain Keto Acid Dehydrogenase E1 Beta Gene|Branched Chain Keto Acid Dehydrogenase E1 Beta Protein Gene|Branched Chain Keto Acid Dehydrogenase E1 Subunit Beta wt Allele|Branched Chain Keto Acid Dehydrogenase E1, Beta Polypeptide (Maple Syrup Urine Disease) Gene|Branched Chain Keto Acid Dehydrogenase E1, Beta Polypeptide Gene|Branched-Chain Keto Acid Dehydrogenase E1, Beta Polypeptide Gene|E1B|E1b-Beta Subunit of the Branched-Chain Complex Gene|MSUD1B|Maple Syrup Urine Disease Gene|OVD1B|Testis Secretory Sperm-Binding Protein Li 240mP Gene

    human bckdhb wild-type allele is located in the vicinity of 6q14.1 and is approximately 360 kb in length. this allele, which encodes 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial protein, plays a role in the decarboxylation of alpha-ketoacids. mutation of the gene is associated with maple syrup urine disease 1b.

  • DBT wt Allele|BCATE2|BCKAD E2 Subunit Gene|BCKAD-E2|BCKADE2|BCKDH-E2|BCKDHE2|BCOADC-E2|Branched Chain Acyltransferase, E2 Component Gene|Branched-Chain Acyltransferase, E2 Component Gene|Branched-Chain Keto Acid Dehydrogenase Complex, E2 Component Gene|Dihydrolipoamide Branched Chain Transacylase (E2 Component of Branched Chain Keto Acid Dehydrogenase Complex; Maple Syrup Urine Disease) Gene|Dihydrolipoamide Branched Chain Transacylase E2 wt Allele|E2|E2 Component of Branched Chain Alpha-Keto Acid Dehydrogenase Complex Gene|E2B|Lipoamide Acyltransferase Component of Mitochondrial Branched-Chain Alpha-Keto Acid Dehydrogenase Complex Gene|Mitochondrial Branched Chain Alpha-Keto Acid Dehydrogenase Transacylase Subunit (E2b) Gene

    human dbt wild-type allele is located in the vicinity of 1p21.2 and is approximately 63 kb in length. this allele, which encodes lipoamide acyltransferase component of branched-chain alpha-keto acid dehydrogenase complex, mitochondrial protein, plays a role in branched-chain alpha-keto acid dehydrogenase activity. mutations in the gene are associated with maple syrup urine disease 2.

  • Maple Syrup Urine Disease

    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.

Patient EducationClinical

Metabolic Disorders

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel.

Read the full article at MedlinePlus

Courtesy of MedlinePlus, a service of the U.S. National Library of Medicine.

Convert E71.0 to ICD-9-CMHistory

The closest ICD-9-CM equivalents under the General Equivalence Mappings.

ICD-9-CM
270.3 Bran-chain amin-acid dis
Approximate The match is approximate rather than exact.

Code HistoryHistory

FY 2016AddedAdded to the ICD-10-CM code setEffective October 1, 2015, the first year of ICD-10-CM.
FY 2017–2025No changes
FY 2026CurrentCurrent code set, no changesEffective October 1, 2025 through September 30, 2026.

Questions About E71.0Overview

Is E71.0 a billable code?

Yes. This is a billable ICD-10-CM code, specific enough to report maple-syrup-urine disease on HIPAA-covered claims from October 1, 2025 through September 30, 2026.

What is the ICD-9 equivalent of E71.0?

Under the General Equivalence Mappings, maple-syrup-urine disease converts to ICD-9-CM 270.3 (bran-chain amin-acid dis). The mapping is approximate, so confirm the match fits the documentation.

Footnotes

[1] Chronic - a chronic condition code indicates a condition lasting 12 months or longer and its effect on the patient based on one or both of the following criteria:

  • The condition results in the need for ongoing intervention with medical products,treatment, services, and special equipment
  • The condition places limitations on self-care, independent living, and social interactions.