3-methylhydroxybutyric acidemia

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.

Disease Alternative Name

propionic acidemia
MainRecentTopDoctors