Short chain acyl CoA dehydrogenase deficiency
ICD-10 E71.312 is a billable code used to indicate a diagnosis of short chain acyl coa dehydrogenase deficiency.
Short chain acyl CoA dehydrogenase deficiency (SCADD) is a rare inherited metabolic disorder that affects the body's ability to break down certain fats into energy. This condition is caused by a deficiency of the enzyme short-chain acyl-CoA dehydrogenase, which is crucial for the oxidation of short-chain fatty acids. Individuals with SCADD may experience a range of symptoms, including hypoglycemia, metabolic acidosis, and episodes of lethargy or irritability, particularly during fasting or illness. The severity of symptoms can vary widely, with some individuals remaining asymptomatic. Diagnosis is typically made through newborn screening programs, which detect elevated levels of acylcarnitines in the blood. Management of SCADD involves dietary modifications, including a high-carbohydrate, low-fat diet, and the avoidance of fasting. Regular monitoring and education about recognizing symptoms of metabolic crises are essential for affected individuals and their families.
Detailed history of metabolic crises, dietary management, and growth parameters.
Newborn screening results indicating elevated acylcarnitines, management of metabolic crises.
Pediatricians should ensure thorough documentation of dietary adherence and any episodes of illness.
Genetic testing results, family history of metabolic disorders.
Counseling families about inheritance patterns and implications of SCADD.
Geneticists should document the specific mutations identified and their clinical significance.
Used in conjunction with diagnosis confirmation for SCADD.
Document the necessity of genetic testing based on clinical findings.
Geneticists should ensure that family history is included in the documentation.
Common symptoms include hypoglycemia, metabolic acidosis, lethargy, irritability, and in some cases, no symptoms at all. Symptoms often present during fasting or illness.
