Propionic acidemia
ICD-10 E71.121 is a billable code used to indicate a diagnosis of propionic acidemia.
Propionic acidemia is a rare inherited metabolic disorder caused by a deficiency of the enzyme propionyl-CoA carboxylase, which is crucial for the metabolism of certain amino acids (isoleucine, valine, threonine, and methionine) and odd-chain fatty acids. This deficiency leads to the accumulation of propionic acid in the blood, resulting in metabolic acidosis and a range of clinical symptoms. Patients may present with vomiting, lethargy, hypotonia, and developmental delays. Severe cases can lead to life-threatening complications such as seizures, coma, and even death if not promptly managed. Diagnosis is typically confirmed through newborn screening, biochemical analysis of blood and urine, and genetic testing to identify mutations in the PCC gene. Management includes dietary restrictions to limit protein intake, supplementation with carnitine, and in some cases, emergency interventions to correct metabolic crises. Long-term management focuses on monitoring metabolic status and preventing acute episodes.
Detailed history of metabolic crises, dietary management plans, and growth parameters.
Newborn screening positive for propionic acidemia, management of acute metabolic crisis.
Close monitoring of developmental milestones and nutritional status is essential.
Genetic testing results, family history of metabolic disorders.
Counseling families with a history of propionic acidemia, interpreting genetic test results.
Documentation must clearly link genetic findings to clinical symptoms.
Used when confirming a diagnosis of propionic acidemia through genetic testing.
Documentation of clinical symptoms and family history is required.
Genetic specialists should ensure that all relevant family history is documented.
Common symptoms include vomiting, lethargy, hypotonia, seizures, and developmental delays. Symptoms often present in the first few days of life.
