Notes

**Definition**: Amino acid metabolic disorders are a group of hereditary metabolic disorders. They occur when the body has trouble breaking down certain amino acids, or there may be a problem getting the amino acids into cells. These disorders include phenylketonuria (PKU) and maple syrup urine disease¹⁵.

**Causes**: These disorders are generally caused by an inborn genetic defect in the metabolic pathways of a particular amino acid or a group of amino acids. The body's inability to breakdown certain amino acids in proteins, or the inability to detoxify the by-product of amino acids (ammonia) through the urea cycle, leads to these disorders.

**Transmission**: Amino acid metabolism disorders are hereditary. In most hereditary metabolic disorders, both parents of the affected child carry a copy of the abnormal gene². Usually, two copies of the abnormal gene are necessary for the disorder to occur².

**Effects**: These disorders cause a buildup of harmful substances in your body. That can lead to serious, sometimes life-threatening, health problems¹⁷.

**Signs and Symptoms**: Symptoms can include poor or delayed growth and development, loss in weight, low energy levels, poor appetite, and abnormal odor in sweating and urine¹⁶.

**Treatment**: Treatments may include special diets, medicines, and supplements. Some patients may also need additional treatments if there are complications. Treatment of these disorders is accomplished with dietary restriction of the offending amino acid(s) and sometimes medication.
Amino acid metabolism disorders are usually inherited and can lead to a buildup of harmful substances in the body, causing serious health problems¹². Early diagnosis and treatment are critical¹.

The treatment and management for these disorders may include¹²⁴:

- **Special diets**: These are designed to avoid the precursor amino acids³.
- **Medicines**: Specific medications may be used depending on the type of disorder.
- **Supplements**: These can help to dispose of toxic metabolites or increase enzyme activity³.

In some cases, additional treatments may be needed if there are complications¹⁴. It's important to note that the specific treatment can vary depending on the exact disorder and the individual's condition. Therefore, it's recommended to consult with a healthcare professional for personalized advice.

Source: Conversation with Bing, 11/17/2023
(1) Amino Acid Metabolism Disorders - MedlinePlus. https://medlineplus.gov/aminoacidmetabolismdisorders.html.
(2) Overview of Amino Acid Metabolism Disorders - MSD Manuals. https://www.msdmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/overview-of-amino-acid-metabolism-disorders.
(3) Amino Acid Metabolism Disorders | Effective Health Care (EHC) Program. https://effectivehealthcare.ahrq.gov/health-topics/amino-acid-metabolism-disorders.
(4) Organic acidemia - Wikipedia. https://en.wikipedia.org/wiki/Organic_acidemia.

**Preventive Measures**: Because these disorders can be so serious, early diagnosis and treatment are critical. Newborn babies get screened for many of them, using blood tests.

Source: Conversation with Bing, 11/17/2023
(1) Amino Acid Metabolism Disorders: MedlinePlus. https://medlineplus.gov/aminoacidmetabolismdisorders.html.
(2) Metabolic disease - Amino Acid, Disorders, Metabolism. https://www.britannica.com/science/metabolic-disease/Disorders-of-amino-acid-metabolism.
(3) Disorder of amino acid metabolism (Concept Id: C0002514). https://www.ncbi.nlm.nih.gov/medgen/1867.
(4) Amino Acids and Inherited Amino Acid-Related Disorders - Hindawi. https://www.hindawi.com/journals/jnme/2018/5629454/.
(5) Amino Acid Disorders | State Public Health Laboratory | Health & Senior .... https://health.mo.gov/lab/aminoaciddisorders.php.
(6) Overview of Amino Acid Metabolism Disorders - MSD Manuals. https://www.msdmanuals.com/home/children-s-health-issues/hereditary-metabolic-disorders/overview-of-amino-acid-metabolism-disorders.
(7) Amino Acid Metabolism Disorders | Effective Health Care (EHC) Program. https://effectivehealthcare.ahrq.gov/health-topics/amino-acid-metabolism-disorders.
(8) What Are Amino Acid Disorders? - iCliniq. https://www.icliniq.com/articles/genetic-disorders/amino-acid-disorders.
(9) Amino Acid Transport Defects in Human Inherited Metabolic Disorders - MDPI. https://www.mdpi.com/1422-0067/21/1/119.
(10) AMINO ACID METABOLISM DISORDERS | PPT - SlideShare. https://www.slideshare.net/RabiaKhanBaber/amino-acid-metabolism-disorders.
(11) Overview of Amino Acid Metabolism Disorders - MSD Manuals. https://www.msdmanuals.com/en-sg/home/children-s-health-issues/hereditary-metabolic-disorders/overview-of-amino-acid-metabolism-disorders.