A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT

Öz

Glycogen-storage disease type 0A is a rare autosomal recessively inherited disease resulting from a hepatic glycogen synthase enzyme deficiency. Glycogen-storage disease type 0A is characterized by fasting ketotic hypoglycaemia, postprandial hyperglycemia and lactic acidemia without hepatomegaly. In clinical practice, patients may be asymptomatic, or may present with hypoglycemic convulsions, short stature, growth retardation, osteopenia, and rarely symptoms of hyperglycemia. In this article, we present a 6-year-old girl with previous symptoms of hypoglycaemia, and symptoms of hyperglycemia at the time of admission and genetically diagnosed as glycogen storage disease type 0A.

Anahtar Kelimeler

• Glycogen storage disease type 0A
• ketotic hypoglycaemia
• hyperglycaemia
• lactic acidemia

HİPO VE HİPERGLİSEMİNİN NADİR BİR NEDENİ; GLİKOJEN DEPO HASTALIĞI TİP 0: OLGU SUNUMU

Öz

Glikojen depo hastalığı tip 0A; hepatik glikojen sentaz enzim eksikliği sonucu ortaya çıkan otozomal resesif kalıtılan nadir bir hastalıktır. Glikojen depo tip 0A hastalığı hepatomegali olmaksızın açlık ketotik hipoglisemisi, postprandiyal hiperglisemi ve laktik asidemi ile karakterizedir. Klinik pratikte hastalar asemptomatik olabileceği gibi hipoglisemik konvülziyon, boy kısalığı, büyüme geriliği, osteopeni ve seyrek olarak hiperglisemi semptomları ile başvurabilirler. Bu yazıda daha önce hipoglisemi semptomları olan ve başvuru anında hiperglisemi semptomları bulunan postprandiyal laktik asidemi bulguları ile genetik olarak glikojen depo hastalığı tip 0A tanısı konan 6 yaşında kız hasta sunuldu.

Anahtar Kelimeler

• Glikojen depo hastalığı tip 0A
• ketotik hipoglisemi
• hiperglisemi
• laktik asidemi

Kaynakça

1. 1. Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blümel P, et al. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest 1998;102(3):507-15. [CrossRef]
2. 2. Hasselbalch SG, Knudsen GM, Jakobsen J, Hageman LP, Holm S, Paulson OB. Blood- brain barrier permeability of glucose and ketone bodies during short-term starvation in human. Am J Physiol 1995;268: E1161-6. [CrossRef]
3. 3. Bachrach BE, Weinstein DA, Orho-Melander M, Burgess A, Wolfsdorf JI. Glycogen synthase deficiency (glycogen storage disease type 0) presenting with hyperglycemia and glucosuria: report of three new mutations, J. Pediatr. 140 (2002) 781–783. [CrossRef]
4. 4. Weinstein DA, Correia CE, Saunders AC, Wolfsdorf JI. Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia. Mol Genet Metab 2006;87:284-8. [CrossRef]
5. 5. Lewis GM, Spencer-Peet J, Stewart KM. Infantile hypoglycaemia due to inherited deficiency of glycogen synthetase in liver. Arch Dis Child 1963;38:40-8. [CrossRef]
6. 6. Sherwin RS, Hendler RG, Felig P. Effect of ketone infusions on amino acid and nitrogen metabolism in man. J Clin Invest 1975;55(6):1382-90. [CrossRef]
7. 7. Féry F, Plat L, Melot C, Balasse EO. Role of fat-derived substrates in the regulation of gluconeogenesis during fasting. Am J Physiol 1996;270(5 Pt 1):E822-30.
8. [CrossRef] 8. Kirel B, Ulualan G, Hazer İ, Eren M. Hipogliseminin Nadir Bir Nedeni: Glikojen Depo Hastalığı Tip 0. Turkiye Klinikleri J Pediatr. 2019;28(1):43-6. [CrossRef]

9. 9. Laberge AM, Mitchell GA, van de Werve G, Lambert M. Long-term follow-up of a new case of liver glycogen synthase deficiency. Am J Med Genet 2003;120A(1):19-22. [CrossRef]
10. 10. Ozen H. Glycogen storage diseases. World J Gastroenterol 2007; 13:2541-53. [CrossRef]