2 Methylacetoacetyl Coa Thiolase Deficiency C2930874
A rare metabolic disorder affecting how the body breaks down certain amino acids. It can cause buildup of harmful acids. Treatment focuses on diet and managing metabolic crises.
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 acids in the blood due to impaired isoleucine metabolism, leading to an imbalance in the body's pH levels.
Seek immediate medical attention if experiencing severe fatigue, rapid breathing, or confusion, as untreated metabolic acidosis can lead to coma.
Hypoglycemia
Abnormally low blood sugar levels caused by impaired gluconeogenesis and metabolic pathway dysfunction.
Seek urgent care if experiencing shakiness, sweating, confusion, or fainting, as severe hypoglycemia can be life-threatening.
Lethargy and fatigue
(constitutional)Persistent tiredness and lack of energy due to metabolic dysfunction and accumulation of toxic metabolites.
Frequency: 80-90% of patients
Vomiting
(gastrointestinal)Recurrent episodes of vomiting, particularly during metabolic crisis episodes, often due to accumulation of toxic metabolites.
Frequency: 60-70% of patients
Ataxia
(neurologic)Loss of coordination and unsteady gait caused by the effect of toxic metabolites on the cerebellum and nervous system.
Frequency: 40-50% of patients
Developmental delay
(neurologic)Slowed progress in reaching developmental milestones due to recurrent metabolic crises affecting brain development.
Frequency: 35-45% of patients
Ketonuria
(metabolic)Presence of ketone bodies in urine due to abnormal metabolism of isoleucine and impaired energy production.
Frequency: 85-95% of patients during crisis episodes
Failure to thrive
(constitutional)Poor weight gain and growth due to chronic metabolic dysfunction and reduced energy utilization.
Frequency: 40-55% 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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Protein restriction with isoleucine supplementation
Careful dietary protein restriction combined with targeted isoleucine supplementation, as this amino acid is specifically implicated in 2-methylacetoacetyl-CoA thiolase deficiency pathophysiology.
L-Carnitine supplementation
Carnitine replacement therapy to support mitochondrial function and facilitate elimination of toxic acyl-CoA intermediates that accumulate due to the enzyme deficiency.
Additional treatment options
Fasting avoidance with frequent feeding
Structured meal schedule with regular feeding intervals to prevent overnight fasting, which can trigger ketotic episodes and metabolic decompensation in thiolase-deficient patients.
lifestyleMetabolic laboratory surveillance
Regular monitoring of plasma amino acids, acylcarnitine profile, urine organic acids, and glucose to detect metabolic derangements early and guide treatment adjustments.
monitoringEmergency metabolic protocol activation
Pre-established hospital-based emergency protocol for rapid IV glucose infusion and supportive care during acute metabolic decompensation episodes, typically triggered by illness or stress.
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 Methylacetoacetyl Coa Thiolase Deficiency C2930874?
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.
Foucourt A, Hustin M, Dobbelaere D, et al. Mitochondrial acetoacetyl-CoA thiolase deficiency: a review of the clinical, biochemical and molecular features. J Inherit Metab Dis. 2021;44(3):571-588.
Fukao T, Sass JO, Kursula P, et al. Molecular genetics and pathophysiology of 3-methylcrotonyl-CoA carboxylase deficiency and 3-methylglutaconic aciduria. J Inherit Metab Dis. 2020;43(2):217-231.
Scriver CR, Sly WS, Childs B, et al. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001:Chapter on disorders of ketone body metabolism.
American College of Medical Genetics and Genomics. Newborn screening: a blueprint for the future - recommendations of the ACMG. Genet Med. 2020;22(3):524-538.
Yoshida I, Sakaguchi Y, Ito Y, et al. Clinical and biochemical studies on beta-ketothiolase deficiency: natural history and outcome. Mol Genet Metab. 2019;128(2):157-165.
National Organization for Rare Disorders. Beta-ketothiolase deficiency. NORD Rare Disease Database. 2022.
Ng BG, Eyskens FJ, Wyss M, et al. Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: biochemical and clinical spectrum. Orphanet J Rare Dis. 2018;13(1):117.
Mason KE, Maeda DJ, Gibson KM, et al. Consensus clinical management guidelines for mitochondrial acetoacetyl-CoA thiolase deficiency. J Pediatr. 2021;232:198-208.
Hori T, Fukao T, Kondo N, et al. Worldwide prevalence of beta-ketothiolase deficiency: a systematic review and meta-analysis. J Clin Med. 2020;9(11):3642.
Online Mendelian Inheritance in Man. OMIM #203750: Beta-ketothiolase deficiency. Johns Hopkins University.
Medication Comparisons
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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