Maple-syrup-urine disease
ICD-10 E71.0 is a billable code used to indicate a diagnosis of maple-syrup-urine disease.
Maple-syrup-urine disease (MSUD) is a rare genetic metabolic disorder characterized by the inability to properly metabolize certain branched-chain amino acids (BCAAs) due to a deficiency in the branched-chain alpha-keto acid dehydrogenase complex. This enzyme complex is crucial for the breakdown of leucine, isoleucine, and valine, three essential amino acids. The accumulation of these amino acids and their toxic byproducts leads to a range of severe neurological symptoms, including poor feeding, vomiting, lethargy, and developmental delays. If untreated, MSUD can result in severe neurological damage and can be life-threatening. The disease is typically diagnosed in infancy through newborn screening programs, which detect elevated levels of BCAAs in the blood. Management of MSUD involves a strict dietary regimen that limits the intake of BCAAs, along with regular monitoring of amino acid levels. In some cases, liver transplantation may be considered as a potential cure. Early diagnosis and intervention are critical for improving outcomes and preventing complications associated with this disorder.
Detailed records of growth, development, and dietary intake.
Infants presenting with poor feeding and lethargy.
Need for regular monitoring of amino acid levels and dietary compliance.
Genetic testing results and family history documentation.
Counseling families about inheritance patterns and management options.
Documentation of genetic counseling sessions and follow-up plans.
Used when confirming a diagnosis of MSUD through genetic testing.
Documentation of the clinical indication for testing and results.
Genetic specialists should document family history and counseling provided.
Maple-syrup-urine disease is primarily caused by a deficiency in the branched-chain alpha-keto acid dehydrogenase complex, which is essential for the metabolism of branched-chain amino acids.
