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Disorders of amino-acid metabolism

Also known as: Inborn errors of amino acid or other organic acid metabolism, unspecified

General information only. Anpheros does not diagnose and does not recommend treatment. Talk to a doctor or pharmacist about your situation. In an emergency, call 112 (or your local emergency number).

In short

Metabolism is the process the body uses to make energy from food, which is broken down into sugars and acids. In amino acid metabolism disorders, such as phenylketonuria and maple syrup urine disease, the body has trouble breaking down certain amino acids or getting them into cells. These inherited disorders cause a buildup of harmful substances that can lead to serious, sometimes life-threatening, health problems. Because these disorders can be very serious, newborn babies are screened using blood tests to allow for early diagnosis and treatment.

Source: MedlinePlus, National Library of Medicine.

AI-generated summary of the sources cited on this page, checked automatically against them. Not reviewed by a clinician; not medical advice.

Codes

ICD-10
E72
ICD-11
5C50.Z Inborn errors of amino acid or other organic acid metabolism, unspecified

Description

Metabolism is the process your body uses to make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Your digestive system breaks the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body. If you have a metabolic disorder, something goes wrong with this process.

One group of these disorders is amino acid metabolism disorders. They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together to form proteins. If you have one of these disorders, your body may have trouble breaking down certain amino acids. Or there may be a problem getting the amino acids into your cells. These problems cause a buildup of harmful substances in your body. That can lead to serious, sometimes life-threatening, health problems.

These disorders are usually inherited. A baby who is born with one may not have any symptoms right away. Because the disorders can be so serious, early diagnosis and treatment are critical. Newborn babies get screened for many of them, using blood tests.

Treatments may include special diets, medicines, and supplements. Some babies may also need additional treatments if there are complications.

Source: MedlinePlus, National Library of Medicine.

Next to it in ICD-10

Neighbouring codes in the classification, not a medical link.

External resources

Questions

What is the ICD-10 code for Disorders of amino-acid metabolism?

E72 (WHO, International Classification of Diseases, 10th Revision).

What is the ICD-11 code for Disorders of amino-acid metabolism?

5C50.Z: Inborn errors of amino acid or other organic acid metabolism, unspecified (WHO, ICD-11 for Mortality and Morbidity Statistics).

Sources and attribution

  • ICD-11 for Mortality and Morbidity Statistics, © World Health Organization, licensed under CC BY-ND 3.0 IGO.
  • Names other than the official source titles: Anpheros translations and plain-language names, made with AI assistance and checked automatically; the source names are in English.
  • Source: MedlinePlus, National Library of Medicine.
  • ICD-10 codes and titles © World Health Organization. Source: WHO, International Classification of Diseases, 10th Revision (2019).

Anpheros Search catalog 2026.10.5, published 17 October 2026. About the data →