Lipoyl Transferase 1 Deficiency C4225379
A rare metabolic disorder affecting how cells convert food into energy. It can cause neurological problems and developmental delays. Treatment involves supportive care to manage symptoms.
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
Lactic acidosis
Seizures
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Developmental delay
(metabolic)Hypotonia
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Ketogenic Diet Therapy
High-fat, adequate-protein, low-carbohydrate diet providing alternative energy substrates that may bypass the metabolic block in patients with this mitochondrial disorder.
Comprehensive Metabolic Monitoring
Frequent assessment of lactate, pyruvate, amino acids, organic acids, and neurological function to evaluate disease progression and treatment response.
Additional treatment options
Mitochondrial Support Therapy
Coenzyme Q10, L-carnitine, and B-vitamin supplementation to support cellular energy production pathways potentially affected by the enzyme deficiency.
medicationNeurological Rehabilitation
Targeted physical and occupational therapy addressing hypotonia, motor delays, and coordination difficulties commonly seen with this condition.
physical_therapyEmergency Metabolic Protocol
Pre-established hospital admission protocols for metabolic crisis management including IV glucose, electrolyte correction, and supportive care during acute decompensations.
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 Lipoyl Transferase 1 Deficiency C4225379?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Lipoyl Transferase 1 Deficiency C4225379. 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