Isovaleric Acidemia Type I C4017056
Isovaleric Acidemia Type I is an inherited metabolic disorder preventing proper breakdown of the amino acid leucine. Infants may develop life-threatening metabolic crises. Treatment involves specialized diet and supportive care.
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.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Sweaty foot odor
(metabolic)Vomiting
(metabolic)Metabolic acidosis
(metabolic)Seizures
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Leucine-restricted diet
Lifelong dietary management restricting leucine intake through specialized metabolic formulas and careful food selection to prevent toxic metabolite accumulation and acute metabolic decompensation.
Emergency metabolic protocol
Pre-printed sick-day guidelines instructing caregivers to provide high-calorie, leucine-free emergency feeds during illness or fasting to prevent catabolism and metabolic crisis onset.
Additional treatment options
L-carnitine supplementation
Carnitine supplementation to support mitochondrial function and facilitate excretion of toxic acylcarnitine metabolites accumulated in isovaleric acidemia.
medicationGlycine supplementation
Oral glycine therapy to enhance conjugation of isovaleric acid to less toxic metabolites, potentially reducing the frequency of metabolic crises in some patients.
medicationMetabolic laboratory monitoring
Regular biochemical monitoring including plasma amino acids, acylcarnitine profile, and urine organic acids to assess metabolic control and guide dietary adjustments.
monitoringWhen 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 Isovaleric Acidemia Type I C4017056?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Isovaleric Acidemia Type I C4017056. 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