Long Chain/Very Long Chain Acyl CoA Dehydrogenase Deficiency (ICD-10-CM Code: E71.310)

Name of the Condition

• Long chain/very long chain acyl CoA dehydrogenase deficiency.

Summary

Long chain/very long chain acyl CoA dehydrogenase deficiency is an inherited metabolic disorder that impairs the body's ability to break down long-chain fatty acids for energy. This can lead to the accumulation of toxic byproducts, particularly during fasting or illness, and may cause symptoms affecting the liver, muscles, or nervous system. The condition disrupts normal metabolic pathways, potentially resulting in energy deficits or organ damage if untreated.

Causes

These disorders are caused by genetic mutations that affect enzymes or transport proteins involved in fatty-acid oxidation. Most are inherited in an autosomal recessive pattern, meaning both parents must carry a mutated gene for a child to be affected. The specific genetic defect determines the severity and clinical presentation of the condition.

Risk Factors

• Family history of fatty-acid oxidation disorders.
• Consanguineous relationships (parents who are closely related).
• Certain ethnic populations with higher carrier rates for specific mutations.

Symptoms

• Muscle weakness or pain, especially during exercise or fasting.
• Hypoglycemia (low blood sugar) or lethargy.
• Enlarged liver (hepatomegaly) or liver dysfunction.
• Neurological symptoms, such as seizures or developmental delays.
• Episodes of metabolic crisis, including vomiting, lethargy, or coma.

Diagnosis

Diagnosis typically involves biochemical testing to measure enzyme activity in blood or tissue samples, genetic testing to identify specific mutations, and metabolic profiling to detect abnormal fatty acid accumulation. Newborn screening may also identify cases early.

Treatment Options

Treatment focuses on managing symptoms and preventing metabolic crises through dietary modifications, such as avoiding fasting and using specialized formulas. Carnitine supplementation may be recommended to support fatty acid metabolism. In severe cases, hospitalization for metabolic stabilization may be necessary.

Prognosis and Follow-Up

Prognosis varies depending on the severity of the condition and adherence to treatment. Regular follow-up with metabolic specialists is essential to monitor growth, organ function, and metabolic stability. Early diagnosis and intervention can improve outcomes.

Complications

• Recurrent metabolic crises leading to organ damage.
• Developmental delays or neurological impairment.
• Liver dysfunction or failure.
• Sudden unexpected death in infancy (SUDI) in severe cases.

Lifestyle & Prevention

• Avoid prolonged fasting; maintain regular feeding schedules.
• Follow a diet low in long-chain fats and high in carbohydrates.
• Monitor for signs of metabolic stress during illness or stress.
• Ensure access to emergency care for rapid intervention during crises.

When to Seek Professional Help

Seek immediate medical attention if symptoms of metabolic crisis occur, such as severe lethargy, vomiting, or altered consciousness. Regular check-ups with a metabolic specialist are recommended for ongoing management.

Tips for Medical Coders

Document the specific subtype (long chain vs. very long chain) when available, as this may impact coding specificity. Ensure documentation supports the diagnosis, including genetic testing results or biochemical evidence. Code E71.310 is specific to long chain/very long chain acyl CoA dehydrogenase deficiency; verify no more specific code applies before use.