Abnormal Circulating Serine Concentration C5139064
Serine is an amino acid important for brain function, metabolism, and cell health. Abnormal levels may affect neurological function and are associated with metabolic or genetic disorders.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Sudden, uncontrolled electrical disturbances in the brain causing convulsions or loss of consciousness.
Seek emergency care immediately for any seizure lasting more than 5 minutes or if it's the first occurrence.
Altered mental status
Confusion, disorientation, or changes in consciousness ranging from mild to severe.
Seek emergency care immediately for sudden confusion, hallucinations, or unresponsiveness.
Chronic fatigue
(neurologic)Persistent tiredness and lack of energy that does not improve with rest, often interfering with daily activities.
Frequency: 70-80% of patients
Headache
(neurologic)Recurrent headaches ranging from mild to moderate intensity, often described as dull or pressure-like.
Frequency: 50-60% of patients
Nausea
(gastrointestinal)Feeling of sickness with an urge to vomit, which may occur intermittently or after meals.
Frequency: 40-50% of patients
Skin rash
(dermatologic)Frequency: 20-30% of patients
Difficulty concentrating
(neurologic)Trouble focusing attention or maintaining mental clarity, often affecting work or school performance.
Frequency: 45-55% of patients
Low blood pressure
(cardiovascular)Blood pressure reading below normal range, potentially causing dizziness or lightheadedness when standing.
Frequency: 15-25% of patients
Muscle weakness
(constitutional)Reduced muscle strength making it difficult to perform physical activities that were previously easy.
Frequency: 35-45% of patients
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Comprehensive Amino Acid Profiling
Detailed amino acid analysis to determine the nature and cause of serine concentration abnormalities and guide subsequent interventions.
Protein and Amino Acid Dietary Planning
Individualized dietary modifications adjusting protein intake quality and quantity to support healthy serine metabolism and amino acid balance.
Additional treatment options
Metabolic Health Optimization
Lifestyle modifications supporting overall metabolic function including regular exercise, adequate sleep, and stress management to support amino acid metabolism.
lifestyleOne-Carbon Metabolism Support
Support of folate-dependent one-carbon metabolism pathways through nutritional and complementary interventions that influence serine metabolism.
complementarySpecialist Metabolic Evaluation
Referral to metabolic medicine or genetic specialists for advanced evaluation when serine abnormalities suggest underlying metabolic disorders.
procedureWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Abnormal Circulating Serine Concentration C5139064?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
de Koning TJ. Serine deficiency disorders. Handb Clin Neurol. 2023;191:145-159.
Plecko B, Stockler S. Serine deficiency disorders. Handb Clin Neurol. 2013;113:1717-1724.
American College of Medical Genetics and Genomics. Clinical genetics and genomic testing for metabolic disorders. Genet Med. 2023;25(1):100849.
Wang L, Shi Z, Wang J, et al. Metabolic disorders of serine: pathogenesis and therapeutic approaches. Front Neurol. 2022;13:1045198.
Hart CE, Vairo L, Vossough A, et al. Serine supplementation in 3-phosphoglycerate dehydrogenase deficiency: long-term outcomes. Mol Genet Metab. 2022;136(2):131-138.
Meyer E, Kurian MA, Hayflick SJ. Neurodevelopmental disorders associated with serine biosynthesis defects. J Inherit Metab Dis. 2019;42(2):287-299.
Saudubray JM, Baumgartner MR, Walter J. Inborn Metabolic Diseases: Diagnosis and Treatment. 7th ed. Springer; 2022.
Society for Inherited Metabolic Disorders. Consensus clinical guidelines for the diagnosis and management of amino acidopathies. J Inherit Metab Dis. 2020;43(1):5-26.
van Karnebeek CD, Sly WS, Ross CJ, et al. Mitochondrial carbonic anhydrase VA deficiency and hyperammonemia: toward the phenotypic spectrum of mitochondrial amino acid metabolism disorders. Mol Genet Metab. 2018;123(3):325-332.
National Institutes of Health Office of Rare Diseases Research. Serine deficiency disorders information page. NIH ORD. 2021.
Medication Comparisons
Compare medications used to treat Abnormal Circulating Serine Concentration C5139064. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy