E71.310
Long chain/very long chain acyl CoA dehydrogenase deficiency
Clinical Classification Guidelines
Inclusion Terms
- LCAD deficiency
- VLCAD deficiency
Medical Intelligence & Overview
Long Chain/Very Long Chain Acyl-CoA Dehydrogenase Deficiency (LCAD/VLCAD deficiency) is a rare inherited disorder that affects the body's ability to break down certain fats for energy. This condition results from a deficiency of the enzyme responsible for the initial steps in metabolizing long-chain fatty acids in the mitochondria, the energy-producing parts of cells. Without adequate amounts of this enzyme, individuals may experience difficulty generating energy from fats, especially during fasting or increased physical activity. Recognizing this disorder early is crucial for management and avoiding potential complications.
Causes & Symptoms
Clinical Causes: Genetic mutations inherited in an autosomal recessive pattern Mutations in the ACADVL gene, which encodes the enzyme very long-chain acyl-CoA dehydrogenase Family history of metabolic disorders involving fatty acid oxidation
Key Symptoms: Muscle weakness or fatigue, especially during periods without food Episodes of hypoglycemia (low blood sugar levels) Symptoms of rhabdomyolysis, such as muscle pain, weakness, and dark urine Lethargy or irritability in infants Poor feeding and failure to thrive in young children Heart-related issues, including cardiomyopathy, in some cases Hepatomegaly (enlarged liver) during episodes
Diagnostic & Treatment
Diagnosis Path: Diagnosis involves a combination of clinical evaluation, biochemical tests, and genetic analysis. Key steps include: - Blood tests to detect abnormal levels of acylcarnitines, which indicate disrupted fatty acid oxidation - Urinary organic acid analysis revealing specific patterns associated with VLCAD deficiency - Enzyme activity assays performed on skin fibroblasts or muscle tissue samples - Genetic testing to identify mutations in the ACADVL gene Early detection through newborn screening programs can facilitate timely intervention and management.
Treatment Protocols: Management of VLCAD deficiency focuses on preventing metabolic crises and maintaining overall health. Key strategies include: - A diet low in long-chain fatty acids and rich in medium-chain triglycerides (MCT oil) which can be more easily metabolized - Regular feeding schedules to avoid fasting and hypoglycemia - Supplemental carnitine therapy, if prescribed, to help eliminate fatty acid metabolites - Avoidance of prolonged fasting and strenuous physical activity during illness or stress - Close medical monitoring, especially during periods of illness or increased energy demands - Education and emergency protocols for families to recognize and respond to metabolic crises In some cases, a healthcare team may recommend additional treatments based on individual needs.
Clinical Advice & FAQs
Billing Guidance
Is E71.310 a billable ICD-10 code?
Yes, E71.310 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E71.310?
Clinical documentation must specify the nature of Long chain/very long chain acyl CoA dehydrogenase deficiency and any associated comorbidities for accurate reporting.
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