Abstract
Bu çalışmada akraba evliliğinden (olan anne babadan- çıkarılacak) doğan, (artmış-çıkarılacak) serum ve beyin omurilik sıvısı glisin düzeylerinde yükseklik ile tanı konulan nonketotik hiperglisinemili bir yenidoğan sunuldu. Hipotoni, emme güçlüğü, konvülziyon ya da sepsis kuşkusu olan yenidoğanlarda doğumda sağlıklı olsalar bile, özellikle akraba evliliğinin sık olduğu ülkemizde, doğumsal metabolizma hastalıkları daima akılda tutulmalıdır.
Keywords
References
- Rezvani I. Defects in Metabolism of Amino Acids. Behrman ER, Kliegman MR, Jenson BH, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia: W.B. Saunders, 2007:529-67.
- Rezvani I. An Approach to Inborn Errors of Metabolism. Behrman ER, Kliegman MR, Jenson BH, eds. Nelson Textbook of Pediat- rics. 18th ed. Philadelphia: W.B. Saunders; 2007: 527-9.
- Tada K, Hayasaka K. Nonketotic hyperglycinemia: clinical and bi- ochemicial aspects. Eur J Pediatr 1987:146(3):221-7.
- Tada K. Nonketotic hyperglycinemia: clinical and metabolic as- pects. Enzyme 1987:38(1-4):27-35.
- Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations. Am J Med Genet A 2006:15;140(2):186-8.
- Gitzelmann R, Steinmann B. Clinical and therapeutic aspects of non ketotic hyperglycinemia. J Inher Metab Dis 1982:5(2);113-6.
- İpek İÖ, Atay E, Duras G, Bozaykut A. Neonatal nonketotik hi- perglisinemi. Türk Pediatri Arşivi 2004;39(3):129-31.
- Hamosh A, Maher JF, Bellus GA, Rasmussen SA, Johnston MV. Long-term use of high-dose benzoate and dextromethorp- han for the treatment of nonketotic hyperglycinemia. J Pediatr 1998;132(4):709-13.
- Ohya Y, Ochi N, Mizutani N, Hayakawa C, Watanabe K. Nonketo- tic hyperglycinemia: treatment with NMDA antagonist and consi- deration of neuropathogenesis. Pediatr Neurol 1991;7(1):65-8.
- Boneh A, Degani Y, Harari M. Prognostic clues and outcome, of early treatment of nonketotic hyperglycinemia. Pediatr Neurol 1996;15(2):137-41.
- Deutsch SI, Rosse RB, Mastropaolo J. Current status of NMDA an- tagonist interventions in the treatment of nonketotic hyperglycine- mia. Clin Neuropharmacol 1998;21(2):71-9.
- Tekinalp G, Coskun T, Oran O, Ozalp I, Figen G, Ergin H. Non- ketotic hyperglycinemia in a newborn infant. Turk J Pediatr 1995;37(1):57-60.
- Korman SH, Wexler ID, Gutman A, Rolland MO, Kanno J, Kure S. Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation. Ann Neurol 2006;59(2):411-5.
- Lu FL, Wang PJ, Hwu WL, Tsou Yau KI, Wang TR. Neonatal type of nonketotihyperglycinemia. Pediatr Neurol 1999;20(4):295-300.
Abstract
In this study; a neonate born to consanguineous parents who was diagnosed as nonketotic hyperglycinemia due to high plasma and cerebrospinal fluid glycine levels is presented. In newborns presenting with hypotonia, poor feeding, seizures and/or suspected sepsis, although healthy in the delivery, inherited metabolic disorders must be investigated especially in our country because of the high rate of consanguineous marriages
Keywords
References
- Rezvani I. Defects in Metabolism of Amino Acids. Behrman ER, Kliegman MR, Jenson BH, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia: W.B. Saunders, 2007:529-67.
- Rezvani I. An Approach to Inborn Errors of Metabolism. Behrman ER, Kliegman MR, Jenson BH, eds. Nelson Textbook of Pediat- rics. 18th ed. Philadelphia: W.B. Saunders; 2007: 527-9.
- Tada K, Hayasaka K. Nonketotic hyperglycinemia: clinical and bi- ochemicial aspects. Eur J Pediatr 1987:146(3):221-7.
- Tada K. Nonketotic hyperglycinemia: clinical and metabolic as- pects. Enzyme 1987:38(1-4):27-35.
- Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations. Am J Med Genet A 2006:15;140(2):186-8.
- Gitzelmann R, Steinmann B. Clinical and therapeutic aspects of non ketotic hyperglycinemia. J Inher Metab Dis 1982:5(2);113-6.
- İpek İÖ, Atay E, Duras G, Bozaykut A. Neonatal nonketotik hi- perglisinemi. Türk Pediatri Arşivi 2004;39(3):129-31.
- Hamosh A, Maher JF, Bellus GA, Rasmussen SA, Johnston MV. Long-term use of high-dose benzoate and dextromethorp- han for the treatment of nonketotic hyperglycinemia. J Pediatr 1998;132(4):709-13.
- Ohya Y, Ochi N, Mizutani N, Hayakawa C, Watanabe K. Nonketo- tic hyperglycinemia: treatment with NMDA antagonist and consi- deration of neuropathogenesis. Pediatr Neurol 1991;7(1):65-8.
- Boneh A, Degani Y, Harari M. Prognostic clues and outcome, of early treatment of nonketotic hyperglycinemia. Pediatr Neurol 1996;15(2):137-41.
- Deutsch SI, Rosse RB, Mastropaolo J. Current status of NMDA an- tagonist interventions in the treatment of nonketotic hyperglycine- mia. Clin Neuropharmacol 1998;21(2):71-9.
- Tekinalp G, Coskun T, Oran O, Ozalp I, Figen G, Ergin H. Non- ketotic hyperglycinemia in a newborn infant. Turk J Pediatr 1995;37(1):57-60.
- Korman SH, Wexler ID, Gutman A, Rolland MO, Kanno J, Kure S. Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation. Ann Neurol 2006;59(2):411-5.
- Lu FL, Wang PJ, Hwu WL, Tsou Yau KI, Wang TR. Neonatal type of nonketotihyperglycinemia. Pediatr Neurol 1999;20(4):295-300.
Details
| Other ID | JA88KV67TV |
|---|---|
| Journal Section | Research Article |
| Authors | |
| Publication Date | December 1, 2012 |
| Submission Date | December 1, 2012 |
| Published in Issue | Year 2012 Volume: 6 Issue: 1 |
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