3 Hydroxy 3 Methylglutaryl Coa Synthase Deficiency C2751532
A metabolic disorder affecting the body's ability to produce energy from fats. Episodes of low blood sugar, vomiting, and metabolic crisis can occur, especially during fasting or illness. Dietary management and emergency protocols are essential.
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
Hypoglycemia
Metabolic acidosis
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Vomiting
(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
Low-protein dietary management
Restriction of dietary protein intake reduces the accumulation of toxic metabolites. A carefully calculated protein allowance based on age and weight helps maintain metabolic stability.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
L-carnitine supplementation
L-carnitine supplementation supports mitochondrial function and helps remove toxic metabolites. This amino acid supplement is generally well-tolerated and may improve energy metabolism.
Additional treatment options
Frequent feeding schedule to prevent fasting
Regular feeding schedule with complex carbohydrates helps maintain blood glucose and prevents metabolic stress. Avoiding prolonged fasting periods is essential for metabolic stability.
lifestyleMetabolic crisis prevention monitoring
Regular monitoring of metabolic markers including acylcarnitine profile and urinary organic acids. Early intervention when abnormalities are detected helps prevent decompensation.
monitoringEmergency IV glucose protocol
Hospital-based emergency protocol for IV glucose administration during metabolic crisis episodes. Family education on recognizing early signs of decompensation and when to seek emergency care.
procedureWhen 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 Hydroxy 3 Methylglutaryl Coa Synthase Deficiency C2751532?
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.
Sass JO, et al. Clinical practice guidelines for fatty acid oxidation disorders and ketone body synthesis defects. J Inherit Metab Dis. 2022.
Mitchell GA, Fukao T. Inborn errors of ketone body synthesis. Adv Clin Chem. 2021.
Hertel JK, et al. Clinical presentation and outcome of HMG-CoA synthase 2 deficiency: a multicenter retrospective case series. Mol Genet Metab. 2020.
Thompson GR, Wanders RJM. Ketone body metabolism and its disorders. Metabolism. 2019.
Medication Comparisons
Compare medications used to treat 3 Hydroxy 3 Methylglutaryl Coa Synthase Deficiency C2751532. 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