Disorder of carnitine metabolism, unspecified
ICD-10 E71.40 is a billable code used to indicate a diagnosis of disorder of carnitine metabolism, unspecified.
Disorders of carnitine metabolism are a group of inherited metabolic conditions that affect the body's ability to utilize fatty acids for energy. Carnitine is a crucial molecule that transports long-chain fatty acids into the mitochondria, where they are oxidized to produce energy. When there is a deficiency or dysfunction in carnitine metabolism, it can lead to an accumulation of fatty acids in the body, resulting in various symptoms such as muscle weakness, hypoglycemia, cardiomyopathy, and liver dysfunction. The unspecified nature of this code indicates that the specific type of carnitine disorder has not been clearly defined, which can complicate diagnosis and treatment. Genetic mutations affecting enzymes involved in carnitine synthesis or transport can lead to these disorders, and they may present in infancy or later in life. Diagnosis typically involves biochemical testing to measure carnitine levels and genetic testing to identify specific mutations. Management may include dietary modifications, supplementation with carnitine, and monitoring for complications.
Detailed family history and genetic testing results must be documented.
Patients presenting with unexplained metabolic crises or developmental delays.
Genetic counseling may be necessary for family planning and understanding inheritance patterns.
Growth and developmental milestones should be documented, along with metabolic screening results.
Infants with hypotonia or failure to thrive may require evaluation for metabolic disorders.
Early diagnosis and intervention are critical to prevent long-term complications.
Used when a patient is suspected of having a carnitine metabolism disorder.
Documentation of clinical symptoms and family history is required.
Genetic specialists should ensure comprehensive family history is included.
Common symptoms include muscle weakness, hypoglycemia, cardiomyopathy, and liver dysfunction. Symptoms can vary widely based on the specific disorder and age of onset.
