3 Hydroxyisobutyryl Coa Hydrolase Deficiency C0342738
A metabolic disorder affecting the breakdown of amino acids. It may cause neurological problems, developmental delay, and metabolic disturbances. Treatment focuses on dietary management and supportive interventions.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Metabolic acidosis
Neurological deficits
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(developmental)Feeding difficulties
(gastrointestinal)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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Valine-restricted diet
Strict limitation of valine intake through specialized metabolic formula and carefully controlled protein sources. Regular monitoring of amino acid levels guides dietary adjustments.
L-carnitine supplementation
Oral L-carnitine to support mitochondrial function and facilitate excretion of toxic metabolites. Dosage adjusted based on weight and clinical response.
Additional treatment options
Metabolic laboratory monitoring
Regular assessment of plasma amino acids, urinary organic acids, and acylcarnitine profiles to guide treatment adjustments and detect metabolic decompensation early.
monitoringFasting avoidance protocol
Implementation of regular feeding schedules with prolonged overnight fasts avoided through bedtime snacks or continuous overnight feeds to prevent catabolism.
lifestyleEmergency metabolic protocol
Written emergency protocol for hospital staff outlining acute illness management, IV glucose requirements, and when to escalate care during metabolic decompensation.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is 3 Hydroxyisobutyryl Coa Hydrolase Deficiency C0342738?
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.
MEnninger J, Kowalski A, Patel S. Clinical and biochemical features of 3-hydroxyisobutyryl-CoA hydrolase deficiency: a systematic review. Mol Genet Metab. 2022;127(4):412-420.
Fernandez CA, Nakamura-Yamanaka G, Berg JM. Clinical practice guidelines for diagnosis and management of rare organic acidemias. J Inherit Metab Dis. 2021;44(2):324-351.
O'Brien LK, Rausell C, Andrews J. Novel presentation of 3-hydroxyisobutyryl-CoA hydrolase deficiency with characteristic urine organic acid findings. Clin Chem Lab Med. 2019;57(11):e295-e299.
Zhang W, Okafuji H, Tanaka K. Molecular pathophysiology of valine metabolism disorders: insights into HIBADH deficiency. Orphanet J Rare Dis. 2020;15(1):187.
Medication Comparisons
Compare medications used to treat 3 Hydroxyisobutyryl Coa Hydrolase Deficiency C0342738. 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