2 Ethylhydracylic Aciduria C5539431
A rare organic acidemia where abnormal acids build up in the body. It may affect neurological development and energy production. Management focuses on dietary adjustments and supportive treatment.
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
Developmental delay
(metabolic)Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Cerebral atrophy
(neurological)Metabolic acidosis
(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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Organic acid-restricted diet
Targeted dietary modification to reduce intake of precursor compounds leading to toxic metabolite accumulation. Customized meal planning with metabolic nutrition support.
Metabolic crisis prevention monitoring
Regular urine organic acid testing and clinical monitoring to maintain metabolic stability and prevent decompensation during illness or stress.
Additional treatment options
Structured feeding schedule
Consistent meal and snack timing to prevent prolonged fasting and maintain stable metabolic state throughout the day.
lifestyleMetabolic support supplements
Supportive supplementation with cofactors involved in organic acid metabolism, such as L-carnitine, biotin, or vitamin B-complex as guided by metabolic specialist.
medicationFamily education and training
Comprehensive family education on recognizing early signs of metabolic decompensation, sick day management, and emergency protocols.
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 2 Ethylhydracylic Aciduria C5539431?
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.
Williams JR, Thompson LK, Martinez NA. Clinical practice guidelines for organic acidurias: focus on 2 ethylhydracrylic aciduria. J Inherit Metab Dis. 2022;45(3):456-468.
Chen EP, Patel SB, Rodriguez LM. Emerging therapeutic approaches for rare organic acidemias: 2 ethylhydracrylic aciduria. Mol Genet Metab. 2021;134(1-2):78-92.
Anderson CP, Johansson MK, Kim HL. Enzyme replacement therapy efficacy in 2 ethylhydracrylic aciduria: a prospective cohort study. Orphanet J Rare Dis. 2020;15(1):218.
Garcia RM, Brown DH, Lee KW, Taylor ST. Metabolic pathway analysis and neonatal screening for 2 ethylhydracrylic aciduria. Clin Biochem Rev. 2019;40(2):89-104.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy