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Type II hyperprolinemia: a case report.
Neslihan Onenli-Mungan1, Bilgin Yüksel, Mürüvet Elkay
1Department of Pediatric Endocrinology and Metabolism, Cukurova University, Faculty of Medicine, Adana, Turkey.
The Turkish Journal of Pediatrics
|June 25, 2004
Summary
Hyperprolinemia type II (HP II), a rare metabolic disorder, can present with severe neurological issues like refractory seizures. This case highlights unique biochemical findings of elevated glycine and ornithine in a young girl with HP II.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Hyperprolinemia type II (HP II) is an inherited metabolic disorder caused by pyroline-5-carboxylate dehydrogenase deficiency.
- While often considered benign, HP II can manifest with neurological complications, including intractable seizures.
Observation:
- A six-year-old girl with HP II presented with recurrent seizures resistant to multiple antiepileptic drugs.
- Clinical examination revealed normal physical, anthropometric, and developmental assessments.
- Family history was negative for neurological or renal disorders, and parents were consanguineous.
Findings:
- Serum analysis showed elevated levels of proline, glycine, and ornithine.
- Urine analysis revealed increased pyrroline-5-carboxylate and hydroxyproline.
- Electroencephalogram indicated significant epileptic abnormalities, with partial seizure control achieved by two antiepileptic medications.
Implications:
- This case presents unique biochemical findings (elevated plasma glycine and ornithine) not commonly reported in HP II literature.
- The findings suggest a potential link between specific biochemical profiles and neurological manifestations in HP II.
- Further research is warranted to understand the genotype-phenotype correlations and optimize treatment strategies for HP II patients with neurological involvement.