E71.311
Medium chain acyl CoA dehydrogenase deficiency
Clinical Classification Guidelines
Inclusion Terms
- MCAD deficiency
Medical Intelligence & Overview
Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD deficiency) is a rare inherited disorder that affects the body's ability to convert certain fats into energy, especially during periods of fasting or illness. This condition is caused by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase, which is essential for breaking down medium-length fatty acids. Without this enzyme functioning properly, individuals may experience serious health problems, including low blood sugar and metabolic crises. Early diagnosis and management are crucial to prevent complications and ensure better quality of life.
Causes & Symptoms
Clinical Causes: Genetic mutation inherited in an autosomal recessive pattern Mutations in the ACADM gene, which provides instructions for making the MCAD enzyme Having inherited two copies of the defective gene, one from each parent, increases the risk Family history of metabolic disorders or sudden unexplained deaths in infancy or childhood
Key Symptoms: Episodes of hypoglycemia (low blood sugar), which can cause sweating, trembling, weakness, and confusion Vomiting and lethargy, especially during fasting or illness Jaundice (yellowing of the skin and eyes) Enlarged liver Seizures in severe cases Poor feeding in infants Weakness and fatigue
Diagnostic & Treatment
Diagnosis Path: Diagnosing MCAD deficiency usually involves a combination of clinical assessment and specialized tests. The primary diagnostic methods include: - Newborn screening through blood tests that detect abnormal levels of certain fatty acids or metabolites - Blood acylcarnitine profile analysis to identify characteristic patterns of medium-chain fatty acids - Confirmatory enzyme activity assay in cultured skin or liver cells - Genetic testing to identify mutations in the ACADM gene Early diagnosis through newborn screening is vital for timely management and prevention of metabolic crises.
Treatment Protocols: Management of MCAD deficiency focuses on preventing metabolic crises and maintaining normal growth and development. Key strategies include: - Regular, carbohydrate-rich meals to prevent fasting and hypoglycemia - Avoidance of prolonged fasting and educating caregivers on how to handle illness or missed meals - Immediate intake of glucose or carbohydrates during illness or when feeling unwell - Medical alert identification for affected individuals - In some cases, supplements such as carnitine may be recommended, but only under medical supervision - Routine follow-up with healthcare professionals for monitoring and support While there is no cure, proper management significantly reduces the risk of complications and helps individuals lead active, healthy lives.
Clinical Advice & FAQs
Billing Guidance
Is E71.311 a billable ICD-10 code?
Yes, E71.311 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E71.311?
Clinical documentation must specify the nature of Medium chain acyl CoA dehydrogenase deficiency and any associated comorbidities for accurate reporting.
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