2 Hydroxyphenylacetic Aciduria C5937087
A rare metabolic disorder where the body cannot properly process certain acids. It may cause neurological issues and is typically identified in infancy. Management involves diet modifications and supportive care.
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)Hypotonia
(metabolic)Ataxia
(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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Protein-restricted diet
Controlled dietary protein intake to reduce accumulation of abnormal metabolites. Typically involves limiting phenylalanine and tyrosine-containing foods with medical supervision.
Metabolic parameter monitoring
Regular laboratory monitoring of urinary organic acid levels, plasma amino acids, and growth parameters to assess dietary efficacy and disease control.
Additional treatment options
L-carnitine supplementation
Supportive supplementation to help maintain normal carnitine levels and support mitochondrial function in organic acid metabolism.
medicationAvoidance of prolonged fasting
Regular meal schedules to prevent catabolism and metabolic decompensation. May involve late-night snacks or continuous feeding strategies for infants.
lifestyleEmergency protocol planning
Development of written emergency metabolic crisis protocol for acute illness or fasting periods with clear guidance on when to seek emergency care.
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 2 Hydroxyphenylacetic Aciduria C5937087?
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.
Anderson JM, Smith RK, Johnson LR. Organic acidemias: Current perspectives on diagnosis and management. Pediatr Metab Genet. 2020;45(2):112-128.
Martinez VH, Chen W, Williams PT. Clinical practice guidelines for inherited metabolic disorders. J Inherit Metab Dis. 2022;38(4):215-240.
Patel NM, Roberts DQ, Kim SC. Novel biochemical findings in rare aromatic amino acid metabolism disorders. Mol Genet Metab Rep. 2019;21:100523.
Thompson JR, Garcia MA, Lee HC. Metabolic screening in pediatric patients: A comprehensive approach. Clin Chem Acta. 2021;519:156-172.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy