Disorders of pyruvate metabolism and gluconeogenesis
ICD-10 E74.4 is a billable code used to indicate a diagnosis of disorders of pyruvate metabolism and gluconeogenesis.
Disorders of pyruvate metabolism and gluconeogenesis encompass a range of metabolic conditions characterized by the impaired conversion of pyruvate to acetyl-CoA and the synthesis of glucose from non-carbohydrate precursors. These disorders can arise from various enzyme deficiencies, including pyruvate dehydrogenase deficiency, which leads to lactic acidosis and neurological symptoms due to the accumulation of pyruvate and lactate. Other conditions may involve defects in gluconeogenesis, resulting in hypoglycemia and metabolic crises, particularly during fasting or illness. Genetic mutations affecting enzymes such as pyruvate carboxylase and phosphoenolpyruvate carboxykinase can lead to significant clinical manifestations, including developmental delays, seizures, and failure to thrive. Diagnosis typically involves biochemical testing, genetic analysis, and metabolic profiling to identify specific enzyme deficiencies. Management strategies may include dietary modifications, supplementation, and in some cases, enzyme replacement therapy. Early diagnosis and intervention are crucial to prevent severe complications and improve patient outcomes.
Detailed family history, growth parameters, and developmental milestones.
Infants presenting with hypoglycemia, developmental delays, or metabolic acidosis.
Consideration of genetic counseling for families with a history of metabolic disorders.
Genetic test results, family pedigree, and clinical findings.
Patients with suspected hereditary metabolic disorders requiring genetic evaluation.
Documentation of specific genetic mutations and their implications for treatment.
Used when a patient is suspected of having a pyruvate metabolism disorder.
Document clinical indications for testing and results.
Genetic counseling may be necessary for families.
Common symptoms include hypoglycemia, lactic acidosis, developmental delays, seizures, and failure to thrive, particularly in infants and children.
