Non-Ketotic Hyperglycinemia

Year 2015, , 117 - 121, 09.10.2015

Murat Şan Eren Çağan , Sedat Işıkay Emine Şan Havva Çağan

https://doi.org/10.17826/cutf.37852

Abstract

On the newborn period some metabolic diseases may cause encephalopathy clinic which can threat the life. This is related with tke accumulation of metabolic intermediates ond the brain and their toxic effects.Babies are usually asymptomatic at birth. By the accumulation of toxic metabolytes patients have the encephalopathy symptoms such as hypotonia, hypertonia, convulsions and lethargy. In this article we report a patient who came to the clinic with decreased absorbtion, widely hypotonia, myoclonic seizures and hiccups and who has been diagnosed as non ketotic hyperglycinemia.

Keywords

-

Non-Ketotik Hiperglisinemi

Abstract

Yenidoğan döneminde bazı metabolik hastalıklar hayatı tehdit eden ensefalopati tablosu olarak ortaya çıkar. Bu durum bazı metabolizma ara ürünlerinin beyinde birikerek toksik etkiler göstermesi ile ilişkilidir. Bebekler doğumda genelde asemptomatiktir. Yaşamın ilk günlerinde toksik metabolitlerin birikimi ile hastalarda yaygın hipotoni veya hipertoni, konvülzyonlar ve letarji gibi ensefalopati bulguları ortaya çıkar. Bu yazıda emmede azalma, yaygın hipotoni, miyoklonik nöbet ve hıçkırık nedeni ile gelen ve non-ketotik hiperglisinemi tanısı koyduğumuz bir infant sunulmuştur.

Keywords

Hiperglisinemi, Ketotik Olmayan; Yenidoğanlar; Ensefalopatiler, Metabolik, Doğuştan

References

• Hamosh A, Maher JF, Bellus GA, Rasmussen SA, Johnston MV. Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia. J Pediatr. 1998;132:709-13.
• von WL, Simila S, Saukkonen AL, Koivisto M. Failure of strychnine treatment during the neonatal period in three Finnish children with nonketotic hyperglycinemia. Pediatrics. 1980;65:1166-9.
• Boneh A, Korman SH, Sato K, et al. A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. J Hum Genet. 2005;50:230-4.
• Balfe BE. A survey of group practice in the United States, 1965. Public Health Rep. 1969;84:597-603.
• Rezvani I. Defects in metabolism of aminoacids. Nelson textbook of pediatrics. In: Kliegman RM BRJHSB, editor. Philadelphia: Saunders. 2007;549- 50.
• Schutgens RB, Ket JL, Hayasaka K, Tada K. Non- ketotic hyperglycinaemia due to a deficiency of T- protein in the glycine cleavage system in liver and brain. J Inherit Metab Dis. 1986;9:208-14.
• Cataltepe S, van Marter LJ, Kozakewich H, Wessel DL, Lee PJ, Levy HL. Pulmonary hypertension associated with nonketotic hyperglycinaemia. J Inherit Metab Dis. 2000;23:137-44.
• Van Hove JL, Kishnani PS, Demaerel P, et al. Acute hydrocephalus in nonketotic hyperglycemia. Neurology. 2000;54:754-6.
• Chung B. Non-ketotic Hyperglycinaemia: A Case Report and Review on Treatment. HK J Paediatr (New Series). 2002;152-6.
• Tastekin A . Rare case of neonatal hypotonia: Neonatal Nonketotic Hyperglycinemia. Turk J Med. Sci 2002;32:73-5.
• Tan ES, Wiley V, Carpenter K, Wilcken B. Non- ketotic hyperglycinemia is usually not detectable by tandem mass spectrometry newborn screening. Mol Genet Metab. 2007;90:446-8.
• Applegarth DA, Toone JR, Rolland MO, Black SH, Yim DK, Bemis G. Non-concordance of CVS and liver glycine cleavage enzyme in three families with non- ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses. Prenat Diagn. 2000;20:367-70.
• Kure S, Rolland MO, Leisti J, et al. Prenatal diagnosis of non-ketotic hyperglycinaemia: enzymatic diagnosis in 28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arab mutations. Prenat Diagn. 1999;19:717-20.
• Hamosh A, McDonald JW, Valle D, Francomano CA, Niedermeyer E, Johnston MV. Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant. J Pediatr. 1992;121:131-5.
• Zammarchi E, Donati MA, Ciani F, Pasquini E, Pela I, Fiorini P. Failure of early dextromethorphan and sodium benzoate therapy in an infant with nonketotic hyperglycinemia. Neuropediatrics. 1994;25:274-6.