Glyceronephosphate O Acyltransferase Deficiency Cn305378
A very rare disorder affecting fat metabolism in the body. Due to limited reported cases, the full range of symptoms and optimal treatments are not well established.
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
Cataracts
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Rhizomelic short stature
(metabolic)Ichthyosis
(metabolic)Hearing loss
(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
Dietary fat restriction
Restricting dietary fat intake, particularly long-chain triglycerides, reduces the accumulation of abnormal lipid metabolites. A structured low-fat diet plan developed with a metabolic dietitian helps manage symptoms while ensuring adequate nutrition.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Medium-chain triglyceride supplementation
Medium-chain triglycerides bypass the defective metabolic pathway and provide an alternative energy source. MCT oil or specialized formulas can supplement the diet to prevent energy deficiency while avoiding toxic lipid accumulation.
Additional treatment options
Lipid profile and liver function monitoring
Regular blood tests to monitor triglyceride levels, cholesterol, and liver enzymes help assess disease control and treatment efficacy. Imaging studies may evaluate hepatic fat content.
monitoringLipid-lowering agents when indicated
In cases with significant hypertriglyceridemia, fibrates or other lipid-lowering medications may be considered. These agents help control severe lipid elevations that persist despite dietary management.
medicationCarnitine supplementation
L-carnitine supplementation may support fatty acid metabolism and help reduce lipid accumulation in tissues. Some patients with fatty acid oxidation disorders benefit from carnitine support.
complementaryWhen 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 Glyceronephosphate O Acyltransferase Deficiency Cn305378?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Glyceronephosphate O Acyltransferase Deficiency Cn305378. 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