Asymptomatic Type II Hyperprolinemia Associated with Hyperglycinemia in Three Siblings

Abstract

Type II hyperprolinemia is a rare metabolic disorder associated with mental retardation, seizures, and EEG anomalies.The authors describe a Sicilian family, detected screening for aminoacidopathies by the method of Scriver, in which three siblings have high levels of serum proline and urinary pyrroline-5-carboxylic acid, without any signs of associated anomalies.