Amino Acid Metabolism Disorders Quiz
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Seizure
Involuntary muscle jerks
Lesser facial expressions
Lethargy
Not responsive
Pale looking
Arm weakness
Leg weakness
Limb weakness
Feeling sleepy
Feeling lazy
Loss of appetite
Not seeing your symptoms? No worries!
What is Amino Acid Metabolism Disorders?
Organic acid metabolism disorder is an inherited condition affecting the breakdown of organic acids, leading to metabolic disturbances.
Typical Symptoms of Amino Acid Metabolism Disorders
- Seizure
- Less responsive or fewer facial expressions lately
- Nausea or vomiting
- Looking pale or unwell
- Weakness in your arms or legs
- Child is eating or drinking less because he/she wants to sleep
- Child refuses to eat
Diagnostic Questions for Amino Acid Metabolism Disorders
Your doctor may ask these questions to check for this disease:
- Have you experienced any seizures?
- Have you seemed less responsive or shown fewer facial expressions lately?
- Have you been experiencing nausea or vomiting?
- Are you looking pale or unwell?
- Do you have weakness in your arms or legs?
Treatment of Amino Acid Metabolism Disorders
Treatment for amino acid metabolism disorders varies depending on the specific disorder but generally includes dietary modifications to limit certain amino acids, supplementation with essential nutrients, and close monitoring of metabolic status.
Reviewed By:
Kenji Taylor, MD, MSc (Family Medicine, Primary Care)
Dr. Taylor is a Japanese-African American physician who grew up and was educated in the United States but spent a considerable amount of time in Japan as a college student, working professional and now father of three. After graduating from Brown, he worked in finance first before attending medical school at Penn. He then completed a fellowship with the Centers for Disease Control before going on to specialize in Family and Community Medicine at the University of California, San Francisco (UCSF) where he was also a chief resident. After a faculty position at Stanford, he moved with his family to Japan where he continues to see families on a military base outside of Tokyo, teach Japanese residents and serve remotely as a medical director for Roots Community Health Center. He also enjoys editing and writing podcast summaries for Hippo Education.
Hidetaka Hamasaki, MD (Endocrinology)
Dr. Hamasaki graduated from the Hiroshima University School of Medicine and the Graduate School of Medicine, Jichi Medical University. He completed his residency at the Department of Diabetes, Endocrinology and Metabolism, National Center for Global Health and Medicine Hospital and the Department of Internal Medicine, Kohnodai Hospital, National Center for Global Health and Medicine. He has served in the National Center for Global Health and Medicine Hospital and Kohnodai Hospital and joined Hamasaki Clinic in April 2017. Dr. Hamasaki specializes in diabetes and treats a wide range of internal medicine and endocrine disorders.
Content updated on Feb 28, 2025
Following the Medical Content Editorial Policy
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People with similar symptoms also use Ubie's symptom checker to find possible causes
- My body is jerking
- Twitching
- Becoming listless and unenergetic
- Fever seizures (with fever of >100.4°F / 38°C)
- Seizures without fever
- Have nausea
- The first seizure
- Delayed reaction
- Repetitive seizures
- Seizure with fainting
- Seizures when I wake up
- Feeling little to no interest in anything ans experiencing a cough and eyes discharge
- I have a seizure that is not symmetric
- Nausea improves with vomiting
- Recently had a seizure
See full list
Symptoms Related to Amino Acid Metabolism Disorders
Diseases Related to Amino Acid Metabolism Disorders
FAQs
Q.
Always Tired? Why Your Cells Are Failing: Amino Acid Chart & Medically Approved Next Steps
A.
Always tired even after sleep? An imbalance or poor processing of amino acids can stall your cells’ mitochondria, and the complete essential vs nonessential amino acid chart plus symptoms and root causes are explained below. Next steps include protein targets, specific labs to request, red flags that need urgent care, and when supplements may help or harm. There are several factors to consider that could change your plan, so see the full guidance below.
References:
* Visser FC, Flierman HA, van der Velde J, et al. Mitochondrial dysfunction in chronic fatigue syndrome. QJM. 2012 Nov;105(11):1119-27. doi: 10.1093/qjmed/hcs097. Epub 2012 May 21. PMID: 22619213.
* Newsholme P, et al. Amino acid metabolism and its role in immune response and energy metabolism. Curr Opin Clin Nutr Metab Care. 2017 Jan;20(1):47-52. doi: 10.1097/MCO.0000000000000330. PMID: 27861113.
* Wu G. Amino acids: metabolism, functions, and nutrition. Amino Acids. 2013 Oct;45(3):407-11. doi: 10.1007/s00726-013-1507-6. Epub 2013 May 22. PMID: 23695233.
* Glassford JA, et al. The role of mitochondrial dysfunction in fatigue and the therapeutic potential of metabolic modulators. Pharmacol Ther. 2021 Jul;223:107802. doi: 10.1016/j.pharmthera.2021.107802. Epub 2021 Feb 3. PMID: 33549749.
* Malaguarnera M, et al. L-carnitine in the treatment of chronic fatigue syndrome: a systematic review and meta-analysis. Clin Drug Investig. 2010;30(10):735-43. doi: 10.2165/11537240-000000000-00000. PMID: 20857868.
Q.
Are Your Genes to Blame? Why DNA Triggers Symptoms & Medical Next Steps
A.
Yes, genes can trigger symptoms, but DNA is only part of the story: single-gene disorders can directly cause disease, while most common conditions reflect many genes interacting with environment and epigenetics, so genes raise risk rather than guarantee illness. Next steps include documenting family history, tracking symptoms, discussing guided genetic or metabolic testing and genetic counseling with a clinician, considering earlier screening and targeted treatments, and seeking urgent care for severe red flags; there are several factors to consider, and important details that could change your plan are outlined below.
References:
* Birney E, Smith GD, Greaves M. Genomics in healthcare: understanding the opportunities and challenges. PLoS Med. 2017 Jun 27;14(6):e1002302. doi: 10.1371/journal.pmed.1002302. PMID: 28672051; PMCID: PMC5488975.
* Antonarakis SE, Valsaline H. Understanding the molecular mechanisms of Mendelian disorders. Nat Rev Genet. 2019 Sep;20(9):505-520. doi: 10.1038/s41576-019-0125-5. Epub 2019 May 28. PMID: 31346200.
* Jiang T, Li E, Hu X, Zheng G, Xu X, Tian C. Precision medicine: from genetic diagnosis to genome editing. J Med Genet. 2020 Dec;57(12):804-814. doi: 10.1136/jmedgenet-2019-106597. Epub 2020 Apr 14. PMID: 32284347.
* Varesco L, Bellizzi D, Tavano B, Puzzo L. Current and Future Status of Genetic Disease Diagnosis. Genes (Basel). 2021 Sep 14;12(9):1414. doi: 10.3390/genes12091414. PMID: 34573359; PMCID: PMC8468798.
* Mishra R, Khurana S, Pathak H, Jain A, Singh Y, Dangi A. Personalized Medicine in Genetic Disorders: Current Perspectives and Future Directions. Front Genet. 2022 Mar 10;13:841499. doi: 10.3389/fgene.2022.841499. PMID: 35340638; PMCID: PMC8946764.
Q.
Always Fatigued? Why Your Body Needs Amino Acids + Medical Next Steps
A.
Persistent fatigue can be driven by an amino acid imbalance that limits energy production, neurotransmitters, muscle repair, and hormones, but other causes like anemia, thyroid disease, sleep apnea, and depression are common too. There are several factors to consider; see below to understand more. Next steps include reviewing protein intake and digestion, tracking symptoms, considering a targeted symptom check, and seeing a clinician for labs such as CBC, metabolic panel, thyroid, iron and B12, and when indicated plasma amino acids, with urgent care for red flags like confusion, severe weakness, persistent vomiting, seizures, or rapid worsening; avoid self-prescribing amino acid supplements without medical advice.
References:
* Verkhratsky A, Rodríguez JJ, Parpura V, et al. Amino acid metabolism and the brain in fatigue. J Neural Transm (Vienna). 2021 Jul;128(7):999-1011. doi: 10.1007/s00702-021-02383-0. Epub 2021 Jun 10. PMID: 34110368.
* Hanson MR, Fan J, D'Souza S, et al. Nutritional and metabolic disturbances in myalgic encephalomyelitis/chronic fatigue syndrome: a comprehensive review. Front Mol Biosci. 2024 Jan 12;10:1320499. doi: 10.3389/fmolb.2023.1320499. PMID: 38274642; PMCID: PMC10816999.
* Yao J, Li N, Shi Y, et al. Potential for Amino Acid and Protein Supplementation in Preventing and Treating Fatigue. Nutrients. 2021 May 29;13(6):1872. doi: 10.3390/nu13061872. PMID: 34073383; PMCID: PMC8229648.
* Li P, Wu G. The role of amino acids in the immune system and the gut microbiome: implications for personalized medicine. Adv Nutr. 2018 Jul 1;9(4):460-474. doi: 10.1093/advances/nmy020. PMID: 30007912; PMCID: PMC6042440.
* Wu G. Amino acid metabolism and energy production in health and disease. Adv Exp Med Biol. 2013;777:1-18. doi: 10.1007/978-1-4614-5551-0_1. PMID: 23143891.
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Link to full study:
https://www.medrxiv.org/content/10.1101/2024.08.29.24312810v1References
Aliu E, Kanungo S, Arnold GL. Amino acid disorders. Ann Transl Med. 2018 Dec;6(24):471. doi: 10.21037/atm.2018.12.12. PMID: 30740402; PMCID: PMC6331359.
https://pmc.ncbi.nlm.nih.gov/articles/PMC6331359/Ling, ZN., Jiang, YF., Ru, JN. et al. Amino acid metabolism in health and disease. Sig Transduct Target Ther 8, 345 (2023).
https://www.nature.com/articles/s41392-023-01569-3Pajares, M. Á. (2023). Amino Acid Metabolism and Disease. International Journal of Molecular Sciences, 24(15), 11935.
https://www.mdpi.com/1422-0067/24/15/11935