E71.312
Short chain acyl CoA dehydrogenase deficiency
Clinical Classification Guidelines
Inclusion Terms
- SCAD deficiency
Medical Intelligence & Overview
Short Chain Acyl CoA Dehydrogenase Deficiency, or SCAD deficiency, is a rare genetic disorder that affects how the body breaks down fatty acids for energy. This condition involves a deficiency of the enzyme responsible for the breakdown of short-chain fatty acids during fat metabolism. Since energy production from fats is compromised, individuals with SCAD deficiency may experience episodes of fatigue, muscle weakness, or metabolic crises, particularly during periods of fasting or illness. Although it is a lifelong condition, many individuals manage symptoms effectively with appropriate medical guidance.
Causes & Symptoms
Clinical Causes: Genetic mutations in the ACADS gene, which encodes for the short-chain acyl-CoA dehydrogenase enzyme. Inheritance pattern is autosomal recessive, meaning an individual must inherit two copies of the mutated gene to be affected. Inheriting these genetic mutations leads to insufficient enzyme activity, impairing fatty acid oxidation.
Key Symptoms: Muscle weakness or fatigue, especially during times of increased energy demand or fasting. episodes of hypoglycemia (low blood sugar). In rare cases, developmental delays or failure to thrive in infants. Potential episodes of metabolic crisis characterized by vomiting, lethargy, and dehydration. No symptoms often in unaffected carriers or individuals with mild enzyme deficiencies.
Diagnostic & Treatment
Diagnosis Path: Blood tests measuring levels of specific blood acids and organic acids. Skin or muscle biopsies to assess enzyme activity. Genetic testing to identify mutations in the ACADS gene. Newborn screening programs may detect elevated levels of short-chain acylcarnitines, indicating potential SCAD deficiency.
Treatment Protocols: Main treatment involves avoiding fasting and ensuring regular nutrient intake to prevent metabolic crises. Dietary modifications such as a balanced, low-fat diet rich in carbohydrates. Supplementation with carnitine, which may help improve fatty acid metabolism in some cases. Prompt medical attention during illness or metabolic crises, which may require hospitalization and supportive care. Regular medical check-ups to monitor growth and metabolic health.
Clinical Advice & FAQs
Billing Guidance
Is E71.312 a billable ICD-10 code?
Yes, E71.312 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E71.312?
Clinical documentation must specify the nature of Short chain acyl CoA dehydrogenase deficiency and any associated comorbidities for accurate reporting.
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