Document Detail


Type II hyperprolinemia: a case report.
MedLine Citation:
PMID:  15214748     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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. Laboratory findings revealed elevated levels of proline, glycine, and ornithine in serum and pyrroline-5-carboxylate and hydroxyproline in urine. Cerebral computerized tomography and magnetic resonance imaging were both normal. Electroencephalogram showed a very active epileptic abnormality; partial control of seizures was achieved by two antiepileptics. Increased plasma glycine and ornithine levels are the unique features of our case when compared to the other HP II cases reported in the literature.
Authors:
Neslihan Onenli-Mungan; Bilgin Yüksel; Mürüvet Elkay; Ali Kemal Topaloğlu; Tolunay Baykal; Güler Ozer
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Turkish journal of pediatrics     Volume:  46     ISSN:  0041-4301     ISO Abbreviation:  Turk. J. Pediatr.     Publication Date:    2004 Apr-Jun
Date Detail:
Created Date:  2004-06-24     Completed Date:  2004-08-12     Revised Date:  2005-11-17    
Medline Journal Info:
Nlm Unique ID:  0417505     Medline TA:  Turk J Pediatr     Country:  Turkey    
Other Details:
Languages:  eng     Pagination:  167-9     Citation Subset:  IM    
Affiliation:
Department of Pediatric Endocrinology and Metabolism, Cukurova University, Faculty of Medicine, Adana, Turkey.
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MeSH Terms
Descriptor/Qualifier:
1-Pyrroline-5-Carboxylate Dehydrogenase
Amino Acid Metabolism, Inborn Errors / blood,  diagnosis*
Brain / radiography
Child
Diagnosis, Differential
Female
Glycine / blood
Humans
Hydroxyproline / urine
Magnetic Resonance Imaging
Ornithine / blood
Oxidoreductases Acting on CH-NH Group Donors / deficiency*
Proline / blood*
Pyrroles / urine
Seizures / diagnosis
Tomography, X-Ray Computed
Chemical
Reg. No./Substance:
0/Pyrroles; 147-85-3/Proline; 2906-39-0/delta-1-pyrroline-5-carboxylate; 51-35-4/Hydroxyproline; 56-40-6/Glycine; 7006-33-9/Ornithine; EC 1.5.-/Oxidoreductases Acting on CH-NH Group Donors; EC 1.5.1.12/1-Pyrroline-5-Carboxylate Dehydrogenase; EC 1.5.1.12/ALDH4A1 protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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