Neonatal Nonketotik Hiperglisinemi

Abdullah Kurt; Yaşar Doğan; İsmail Şengül; Abdullah Kurt; Saadet Akarsu; A. Denizmen Aygün

Research Article

Turk J Pediatr Dis 2012; 6(1): 54-58.

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NEONATAL NONKETOTIC HYPERGLYCINEMIA

Authors

Abdullah Kurt

Yaşar Doğan

İsmail Şengül

Abdullah Kurt

Saadet Akarsu

A. Denizmen Aygün

Affiliations

Turk J Pediatr Dis 2012; 6(1): 54-58.

Published: December 1, 2012

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: Nonketotic, hyperglycinemia, newborn, glycine

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.

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How to cite

Kurt A, Doğan Y, Şengül İ, Kurt A, Akarsu S, Aygün AD. NEONATAL NONKETOTIC HYPERGLYCINEMIA. Turk J Pediatr Dis [Internet]. 2012 Dec. 1 [cited 2025 May 25];6(1):54-8. Available from: https://turkjpediatrdis.org/article/view/172

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[ref1] 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.

[ref2] 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.

[ref3] Tada K, Hayasaka K. Nonketotic hyperglycinemia: clinical and bi- ochemicial aspects. Eur J Pediatr 1987:146(3):221-7.

[ref4] Tada K. Nonketotic hyperglycinemia: clinical and metabolic as- pects. Enzyme 1987:38(1-4):27-35.

[ref5] Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations. Am J Med Genet A 2006:15;140(2):186-8.

[ref6] Gitzelmann R, Steinmann B. Clinical and therapeutic aspects of non ketotic hyperglycinemia. J Inher Metab Dis 1982:5(2);113-6.

[ref7] İpek İÖ, Atay E, Duras G, Bozaykut A. Neonatal nonketotik hi- perglisinemi. Türk Pediatri Arşivi 2004;39(3):129-31.

[ref8] 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.

[ref9] 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.

[ref10] Boneh A, Degani Y, Harari M. Prognostic clues and outcome, of early treatment of nonketotic hyperglycinemia. Pediatr Neurol 1996;15(2):137-41.

[ref11] 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.

[ref12] 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.

[ref13] 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.