Disorders of citrate metabolism
ICD-10 E74.82 is a billable code used to indicate a diagnosis of disorders of citrate metabolism.
Disorders of citrate metabolism encompass a range of metabolic conditions characterized by abnormalities in the metabolism of citrate, a key intermediate in the citric acid cycle (Krebs cycle). Citrate plays a crucial role in energy production and the synthesis of fatty acids and cholesterol. Disorders in this pathway can lead to various clinical manifestations, including metabolic acidosis, hypoglycemia, and disturbances in lipid metabolism. These disorders may arise from genetic enzyme deficiencies, such as aconitase deficiency or citrate synthase deficiency, which impair the conversion of citrate to isocitrate and subsequently disrupt the entire metabolic pathway. Symptoms can vary widely, from mild metabolic disturbances to severe systemic effects, depending on the specific enzyme deficiency and the extent of metabolic derangement. Diagnosis typically involves biochemical assays to measure citrate levels and enzyme activity, alongside genetic testing to identify specific mutations. Management strategies may include dietary modifications, supplementation, and symptomatic treatment to address metabolic imbalances.
Detailed family history, genetic testing results, and metabolic profiles.
Patients presenting with unexplained metabolic disturbances or family history of metabolic disorders.
Ensure accurate documentation of genetic mutations and their implications for treatment.
Comprehensive metabolic panels, documentation of symptoms, and treatment plans.
Patients with metabolic syndrome or unexplained endocrine abnormalities.
Focus on the interplay between metabolic disorders and endocrine function.
Used when confirming a diagnosis of citrate metabolism disorder through genetic analysis.
Document the specific genetic tests performed and their relevance to the diagnosis.
Genetic specialists should ensure comprehensive family history is included.
Common symptoms include metabolic acidosis, hypoglycemia, fatigue, and disturbances in lipid metabolism. Symptoms can vary widely based on the specific enzyme deficiency.
