E71.121

Clinical Information

• A rare autosomal inherited organic acid disorder caused by mutations in the pcca and pccb genes. It results in the accumulation of harmful organic acids in the blood and urine. Signs and symptoms appear in infancy and include vomiting, poor feeding, loss of appetite, hypotonia, and lethargy.

• Autosomal recessive metabolic disorder caused by mutations in propionyl-coa carboxylase genes that result in dysfunction of branch chain amino acids and of the metabolism of certain fatty acids. Neonatal clinical onset is characterized by severe metabolic acidemia accompanied by hyperammonemia, hyperglycemia, lethargy, vomiting, hypotonia; and hepatomegaly. Survivors of the neonatal onset propionic acidemia often show developmental retardation, and intolerance to dietary proteins. Late-onset form of the disease shows mild mental and/or developmental retardation, sometimes without metabolic acidemia.

• Elevated accumulation and excretion of glycine accompanied by ketosis that is secondary to methylmalonicacidemia, isovalericacidemia and other organic acidemias, as distinguished from nonketotic hyperglycinemia.

Details

• E71.121 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E71.121 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E71.121 – other international versions of ICD-10 E71.121 may differ.