Emrah CAN, Ali BÜLBÜL, Serdar CÖMERT, Fatih BOLAT, Füsun OKAN, Asiye NUHOĞLU

Neonatal Glisin Ensefalopatisi

Glisin ensefalopatisi otozomal resesif geçişle karakterize, yenidoğan ve erken çocukluk döneminde hızlı seyir izleyen metabolik bir bozukluktur. İnsidansı 1:60000-100000 olarak bildirilmektedir. Glisin aminoasidini parçalayıcı enzim kompleksindeki bozukluk hastalığın temel nedenidir. Başlıca semptomları yaşamın erken döneminde saptanan hipotoni, konvülsiyon, apne atakları, letarji ve komadır. Birçok vaka yaşamın ilk haftaları içinde kaybedilir. Yaşayan bebeklerde ciddi psikomotor retardasyon saptanır. Spesifik bir tedavisi yoktur. Düşük proteinli diyetle kombine sodyum benzoat, dekstrometorfan, ketamin, triptofan, diazepam, striknin, tri- siklik antidsepresanlar, imipramin ve folinik asid gibi çeşitli ajanlar vaka bazında kullanılmaktadır. Bu makalede farklı şekillerde prezente olan ve ileri tetkikleri sonucu neonatal NKH tanısı alan iki vaka sunulmuştur

Anahtar Kelimeler:

Ensefalopati, hiperglisinemi, yenidoğan

Neonatal Glycine Encephalopathy

Glycine encephalopathy is an autosomal recessively inhe- rited metabolic disease with a progressive course in neo- natal period and early infancy. Incidence of the disease is reported to be 1:60000-100000. The basic cause of the disease is the defect in enzyme complex degrading the aminoacid glycine. The major symptoms are hypotonia, convulsion, apnea spells, lethargy and coma. The majority of the patients die within the first week of life. Among sur- vivors severe psychomotor retardation may be observed. No specific treatment of the disease is present. Some treat- ment regimens like low protein diet, sodium benzoate, dextrometorphane, ketamine, triptophane, diazepam, stric- nine, tricyclic antidepressents, imipramin and folinic acid may be used for individual cases. In this report two cases with different clinical manifestations who were diagnosed to have Neonatal NKH are presented

Keywords:

Encephalopathy, hyperglycinemia, neonate,

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Volpe JJ. Hyperammonemia and other disorders of amino acid metabolism. In: Volpe JJ, ed. Neurology of the newborn, 4th ed. London: WB Saunders, 2001: 547-73.
mia. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 1995; 7th edn. New York: McGraw-Hill, 1337-1348.
ycinemia. In Aicardi J, ed. Diseases of the Nervous System in Childhood. London: MacKeith Press, 1992; 43:433.
Cakmak FN, Kesimer M. Transient nonketotic hyperglycine- mia: Two case reports and literature review. Pediatr Neurol 2003; 28:151-5.
biochemical, molecular and neurological aspects. Jpn J Hum Genet 1997; 42:13-22.
Declercq P, et al. Benzoate treatment and the glycine index in nonketotic hyperglycinaemia. J Inherit Metab Dis 2005; 28: 651-63.
Lee PJ, Levy HL. Pulmonary hypertension associated with nonketotic hyperglycinaemia. J Inherit Metab Dis 2000; 23:137-44.
of early treatment of nonketotic hyperglycinemia. Pediatr Neurol 1996; 15:137-41.
Treatment of late-onset nonketotic hyperglycinaemia: Effectiveness of imipramine and benzoate. J Inher Metab Dis 2000; 23:15-21.
tory of nonketotic hyperglycinemia in 65 patients. Neurology 2004; 63:1847-53.
rapy and carnitine deficiency in non-ketotic hyperglycinemia. Am J Med Genet 1994; 59:444-53.
Niedermeyer E, Johnston MV. Dextromethorphan and high dose benzoate therapy for nonketotic hyperglycinemia in an infant. J Pediatr 1992; 121:131-5.
Sawada T. Efficacy of tryptophan for the treatment of nonke- totic hyperglycinemia: a new therapeutic approach for modu- lating the N-methyl-D-aspartate receptor. Pediatrics 95(1):142-6.