Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism
Chapter 4:Endocrine, nutritional and metabolic diseases
ICD-10 E71 is a billable code used to indicate a diagnosis of disorders of branched-chain amino-acid metabolism and fatty-acid metabolism.
Disorders of branched-chain amino acid metabolism and fatty acid metabolism encompass a group of inherited metabolic disorders characterized by the body's inability to properly metabolize certain amino acids and fatty acids. These conditions are often due to enzyme deficiencies that disrupt normal metabolic pathways, leading to the accumulation of toxic metabolites and a range of clinical symptoms. Common disorders in this category include Maple Syrup Urine Disease (MSUD), which results from a deficiency in the branched-chain alpha-keto acid dehydrogenase complex, and various fatty acid oxidation disorders, such as Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD). Clinical manifestations can vary widely, from acute metabolic crises presenting with lethargy, vomiting, and neurological impairment to chronic issues such as growth retardation and developmental delays. Early diagnosis through newborn screening and prompt management are crucial to prevent severe complications and improve outcomes for affected individuals.
Detailed family history, genetic testing results, and metabolic profiles.
Evaluation of newborns with abnormal screening results for metabolic disorders.
Ensure that genetic counseling notes are included to support the diagnosis.
Growth charts, developmental assessments, and metabolic crisis management notes.
Management of infants and children presenting with metabolic crises or developmental delays.
Documenting dietary management and metabolic control measures is crucial.
Used when confirming a diagnosis of a metabolic disorder.
Include genetic testing results and clinical indications for testing.
Genetic specialists should ensure comprehensive family history is documented.
Common symptoms include metabolic crises, lethargy, vomiting, neurological impairment, and growth delays, depending on the specific disorder.
