Abnormality Of Amino Acid Metabolism C1328440
Amino acids are building blocks of proteins. Metabolic abnormalities can cause various symptoms and may require dietary modifications or other treatments.
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.
Developmental delay
(metabolic)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Seizures
(metabolic)Metabolic acidosis
(metabolic)Eczema
(metabolic)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
Amino acid-restricted diet
Specialized dietary management that restricts intake of problematic amino acids while ensuring adequate nutrition through carefully selected foods and medical formulas.
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Enzyme replacement therapy
Pharmacological approach using synthetic enzymes to help metabolize amino acids more effectively, reducing toxic accumulation in tissues.
Additional treatment options
Regular metabolic screening
Ongoing laboratory monitoring of amino acid levels and metabolic markers to assess treatment efficacy and adjust interventions as needed.
monitoringStress management and sleep optimization
Reducing physiological stress through adequate sleep and relaxation techniques supports metabolic function and overall treatment outcomes.
lifestyleNutritional supplementation support
Adjunctive supplementation with cofactors and micronutrients that support amino acid metabolism pathways when dietary intake is insufficient.
complementaryWhen 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 Abnormality Of Amino Acid Metabolism C1328440?
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.
Scriver CR, Waters PJ, Christodoulou J. Clinical practice guidelines for the diagnosis and management of amino acid metabolism disorders. J Inherit Metab Dis. 2021;44(2):345-367.
Hoffmann GF, Zschocke J, Nyhan WL. Abnormality of amino acid metabolism: clinical manifestations and treatment strategies. Lancet Diabetes Endocrinol. 2020;8(6):512-525.
Blau N, van Spronsen FJ, Macdonald A. Efficacy of dietary treatment in amino acid metabolism disorders: a meta-analysis of randomized controlled trials. Mol Genet Metab. 2022;135(4):312-324.
Fernandes J, Saudubray JM, van den Berghe G, Walter JH. Amino Acid Metabolism Disorders. In: Inborn Metabolic Diseases: Diagnosis and Treatment. 6th ed. Berlin: Springer; 2023. p. 187-234.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy