Non-Ketotik Hiperglisinemi: Vaka Sunumu

Year 2011, Volume: 11 Issue: 1, 29 - 31, 01.01.2011

Mehmet Mutlu Yakup Aslan Berna Saygın

https://doi.org/10.5222/j.child.2011.029

Abstract

On sekiz günlük erkek bebek; hareketlerinde azlık, emme- me, havale geçirme ve ciddi apne nedeni ile ünitemize sevk edildi. Alınan öyküsünden, yakınmaların üç günlük iken başladığı öğrenildi. Laboratuvar analizlerinde; amonyak yüksekliği, hipoglisemi, ketozis ve asidoz gibi metabolik hastalığı düşündüren bulgular gözlenmedi. Tandem mass spektrometrik incelemesinde, plazma glisin seviyesinin yüksek olduğu saptandı. Beyin omurilik sıvısı/plazma gli- sin oranı 0.115 idi. Hastaya non-ketotik hiperglisinemi tanısı konuldu. Bu vaka, ender görülen ve rutin tarama testleri ile tanınması güç olan non-ketotik hiperglisinemi- nin tanı ve tedavi yaklaşımlarını vurgulamak amacı ile rapor edildi

Keywords

Yenidoğan, non-ketotik hiperglisinemi, metabolik hastalık

Non-Ketotic Hyperglycinaemia: A Case Report

Abstract

A 18-day-old male infant was referred to our neonatal intensive care unit with complaints of hypotonia, poor feeding, seizure and serious apnea. Medical history revea- led that these complaints had begun at the third postnatal day after an asymptomatic period. Hyperammonemia, hypoglycemia, acidosis and ketosis were not revealed by laboratory examinations. High plasma glycine level was measured in Tandem mass spectrometric study. Cerebrospi- nal fluid / plasma glycine ratio was 0.115. The neonate was diagnosed as non-ketotic hyperglycinaemia. This case was reported in order to emphasize the diagnostic and treat- ment approaches for non-ketotic hiperglycinaemia, a rare disorder of which diagnosis is difficult to make with routine screening tests

Keywords

Neonate, non-ketotic hyperglycinaemia, inborn errors of metabolism

References

• 1. Tada K, Hayasaka K. Non-ketotic hyperglycinaemia: clinical and biochemical aspects. Eur J Paediatr 1987;146:221-7. http://dx.doi.org/10.1007/BF00716464 PMid:3297708
• 2. Rezvani I. Defects in metabolism of aminoacids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF editors. Nelson textbook of pediatrics. Philadelphia, Saunders, 2007;549-50.
• 3. Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics 1998;102:E69. http://dx.doi.org/10.1542/peds.102.6.e69 PMid:9832597
• 4. Sehgal V, Ramji S. Nonketotic hyperglycinemia in a neonate. Indian Pediatr 1998;35:278-81. PMid:9707887
• 5. Kure S, Tada K, Narisawa K. Nonketotic hyperglycinemia: biochemical, molecular, and neurological aspects. Jpn J Hum Genet 1997;42:13-22. http://dx.doi.org/10.1007/BF02766917 PMid:9183995
• 6. İpek Öİ, Atay E, Duras G, Bozaykut A. Neonatal nonketotik hiperglisinemi. Tur Ped Arş 2004;39:129-31.
• 7. Shah DK, Tingay DG, Fink AM, Hunt RW, Dargaville PA. Magnetic resonance imaging in neonatal nonketotic hyperglycinemia. Pediatr Neurol 2005;33:50-2. http://dx.doi.org/10.1016/j.pediatrneurol.2005.01.002 PMid:15993321
• 8. Chung BHY, Wong KY, Lee JSK, Lam BCC. Non-ketotic Hyperglycinaemia: A Case Report and Review on Treatment. HK J Paediatr (New Series) 2002;7:152-6.
• 9. Taştekin A, Örs R, Özkan B, Deniz O. Rare case of neonatal hypotonia: Neonatal Nonketotic Hyperglycinemia. Turk J Med Sci 2002;32:73-5.