Type I hyperprolinemia.
Type I hyperprolinemia is an autosomal recessive disorder characterized by increased plasma and urine proline concentrations due to a deficiency of the enzyme, proline oxidase. This rare inborn error of proline metabolism is generally believed to be a benign condition although many associated clinical abnormalities have been reported. We report two siblings with Type I hyperprolinemia who presented with recurrent seizures. They had elevated plasma proline levels with massive prolinuria without an increased urinary excretion of delta 1-pyrolline-carboxylic acid.
Shivananda
Department of Pediatrics, Vanivilas Children's Hospital, Bangalore Medical College.
Christopher
R
R
Kumar
P
P
D005260:Female; D006801:Humans; D007223:Infant; D008661:Metabolism, Inborn Errors / Q000150:complications; D011394:Proline Oxidase / Q000172:deficiency*; D012008:Recurrence; D012640:Seizures / Q000209:etiology
D011394:Proline Oxidase