Work

Asymptomatic Type II Hyperprolinemia Associated with Hyperglycinemia in Three Siblings

Year: 1974

Type: article

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.

Source: Acta geneticae medicae et gemellologiae

DOI: 10.1017/s1120962300024057

Authors: F. Mollica, L. Pavone, Harvey L. Levy

Institutions: University of Catania, Massachusetts Department of Public Health

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

OpenAlex ID: W2205937235