Type II hyperprolinemia: a case report


Onenli-Mungan N., Yuksel B., Elkay M., Topaloglu A. , Baykal T., Ozer G.

TURKISH JOURNAL OF PEDIATRICS, cilt.46, ss.167-169, 2004 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 46 Konu: 2
  • Basım Tarihi: 2004
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Sayfa Sayıları: ss.167-169

Özet

Hyperprolinemia type II (HP II) is a rare inherited metabolic disease due to the deficiency of pyroline-5-carboxylate dehydrogenase. It is generally believed to be a benign condition although some patients have neurological problems such as refractory convulsions. Here we report a six-year-old girl with HP II who admitted to our hospital with recurrent seizure refractory to multiple antiepileptic drugs. She was the third child of healthy, consanguineous parents. The family history was negative for neurological and renal disorders. On physical examination, she had no facial dysmorphy; the anthropometric measurements, and systemic and neurological examinations were normal. Mental and motor development was appropriate for her age.