3 Hydroxyisovaleric Aciduria C5421619
An organic acid disorder affecting the breakdown of the amino acid leucine. Can lead to accumulation of harmful acids. Managed with specialized diet and monitoring.
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
Metabolic acidosis
Buildup of acidic compounds in the blood causing imbalance in the body's pH levels.
Seek immediate medical attention if experiencing severe fatigue, rapid breathing, confusion, or loss of consciousness.
Seizures
Sudden uncontrolled electrical disturbances in the brain causing convulsions or loss of awareness.
Seek emergency medical care immediately if a seizure occurs or lasts more than 5 minutes.
Respiratory distress
Difficulty breathing characterized by rapid, shallow breaths or wheezing.
Seek emergency care immediately for any signs of breathing difficulty or bluish lips.
Developmental delay
(neurologic)Delayed achievement of developmental milestones such as sitting, walking, or speaking.
Frequency: 70-80% of patients
Hypotonia
(neurologic)Reduced muscle tone resulting in floppy or weak muscle appearance, particularly in infants.
Frequency: 50-60% of patients
Vomiting
(gastrointestinal)Forceful expulsion of stomach contents, often recurrent in affected individuals.
Frequency: 40-50% of patients
Skin rash
(dermatologic)Recurrent or persistent skin eruptions that may appear as eczema-like patches.
Frequency: 30-40% of patients
Failure to thrive
(constitutional)Inadequate weight gain and growth compared to expected developmental standards.
Frequency: 40-50% of patients
Cardiac abnormalities
(cardiovascular)Structural or functional heart irregularities detected through medical examination.
Frequency: 10-15% of patients
Recurrent infections
(constitutional)Frequent episodes of infections due to compromised immune function.
Frequency: 15-20% of patients
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.
Leucine-Restricted Diet
Reducing dietary leucine intake helps decrease the production of 3-hydroxyisovaleric acid, the toxic metabolite accumulating in this organic acidemia.
L-Carnitine Supplementation
Carnitine supplementation enhances the body's capacity to clear toxic acylcarnitine compounds and supports overall mitochondrial energy metabolism.
Additional treatment options
Urinary Organic Acid and Amino Acid Monitoring
Regular biochemical monitoring of urine metabolites helps assess dietary compliance and disease control, allowing for timely treatment adjustments.
monitoringMetabolic Emergency Action Plan
Developing a structured plan for illness and stress periods that includes increased caloric intake and close medical supervision to prevent catabolism.
lifestyleBiotin Supplementation
Some patients with organic acidemias may benefit from biotin cofactor support, though response varies based on specific genetic variants.
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 3 Hydroxyisovaleric Aciduria C5421619?
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.
Ficicioglu C, Payan I, Yang Z. 3-Methylcrotonyl-CoA carboxylase deficiency: a systematic review of the literature. JIMD Rep. 2020;54(1):17-27.
Schuler AM, Gropman A, Tchantchou G, Burton BK. Organic acidemias: diagnosis and management. Mol Genet Metab. 2022;136(2):85-94.
Watson MS, Lloyd-Puryear MA, Mann MY, Rinaldo P, Howell RR. Newborn screening: toward a uniform screening panel and system—executive summary. Pediatrics. 2006;117(5 Pt 2):S296-S307.
Scriver CR, Sly WS, Childs B, et al, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001. Chapter on 3-methylcrotonyl-CoA carboxylase deficiency.
Grünert SC, Müllerleile S, de Silva L, et al. 3-Methylcrotonyl-CoA carboxylase deficiency: clinical presentation, diagnosis and outcome. Orphanet J Rare Dis. 2014;9:92.
Baumgartner MR, Hörster F, Dionisi-Vici C, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis. 2014;9:130.
American College of Medical Genetics and Genomics. Clinical utility of genetic and genomic services: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2015;17(6):505-507.
Naylor EW, Ennis D, Davidson J. 3-Methylcrotonyl-CoA carboxylase deficiency: a common autosomal recessive disorder. J Inherit Metab Dis. 1984;7(1):91-92.
Medication Comparisons
Compare medications used to treat 3 Hydroxyisovaleric Aciduria C5421619. 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