Disorders of ketone metabolism
ICD-10 E71.32 is a billable code used to indicate a diagnosis of disorders of ketone metabolism.
Disorders of ketone metabolism encompass a range of metabolic conditions characterized by abnormal production or utilization of ketone bodies, which are crucial for energy metabolism, particularly during periods of fasting or carbohydrate restriction. These disorders can arise from various enzyme deficiencies, such as those affecting fatty acid oxidation or ketogenesis, leading to an accumulation of ketones in the blood and urine. Common conditions include medium-chain acyl-CoA dehydrogenase deficiency (MCADD) and other inherited metabolic disorders that disrupt normal fatty acid metabolism. Symptoms may include hypoglycemia, metabolic acidosis, and neurological manifestations. Diagnosis typically involves biochemical testing, including plasma ketone levels and urine organic acids analysis. Management often requires dietary modifications, supplementation, and in some cases, emergency interventions to prevent acute metabolic crises. Understanding the genetic basis of these disorders is essential for effective treatment and genetic counseling.
Detailed growth and developmental history, metabolic screening results, and family history.
Infants presenting with hypoglycemia or metabolic acidosis.
Consideration of newborn screening results and early intervention strategies.
Comprehensive genetic testing results, family pedigree, and counseling notes.
Patients with a family history of metabolic disorders undergoing genetic evaluation.
Documentation of genetic counseling sessions and implications for family members.
Used in conjunction with E71.32 for patients presenting with metabolic acidosis.
Document the reason for testing and results.
Pediatricians should ensure that results are interpreted in the context of growth and development.
Common symptoms include hypoglycemia, metabolic acidosis, vomiting, lethargy, and developmental delays. Symptoms can vary based on the specific enzyme deficiency and age of onset.
