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Tip 1a glikojen depo hastalığı: olgu sunumu

Year 2010, Volume: 32 Issue: 1, 115 - 117, 11.03.2010

Abstract

Glikojen depo hastalığı tip Ia nadir görülen otozomal bir hastalıktır. Tip I, hepatik glikojenozlar içerisinde, glukozun karaciğerden salınmasında tam bir blok olduğu için en ağır formudur. Glikozun, glikoneogenez veya glikojenden üretimi bozulmuştur. Hastalığın en belirgin özelliği ağır açlık hipoglisemisi ile birlikte laktik asidoz, serbest yağ asitleri yüksekliği, hiperlipemi, karaciğer enzimlerinin yüksekliği, hiperürisemi ve metabolik asidozdur. Bu yazıda, laboratuar ve klinik bulgulara dayanarak, glikojen depo hastalığı tip Ia olarak tanımladığımız dört aylık bir kız olguyu sunduk

References

  • Hoffman GF, Nyhan W, Zschocke J, Kahler SG, Mayatepek E. Inherited Metabolic Diseases. A Wolter Kluwer Company, 2002; 210-4.
  • Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K. Glycogen storage disease type Ia molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopicalli transcribed mRNA from lymphoblastoid cells. Am J Med Genet 2000; 91: 107-12.
  • Chiang SC, Lee MY, Chung MH, Wang TR, Ko TM, Hwu WL. Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia. J Hum Genet 2000: 45; 197-9.
  • Terzıoglu M, Emre S, Ozen H, Saltık IN, Kocak N, Ciliv G, Yuce A, Gurakan F. Glucose-6- phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia. J Inherit Metab Dis 2001; 24: 881-2.
  • Huner G, Podskarbi T, Schutz M, Baykal T, Sarbat G, Shin YS, Demirkol M. Molecular aspects of glycogen storage disease type Ia in Turkish patients. J Inherit Metab Dis 1998; 21: 445-6.
  • Chou JY, Mansfield BC. Gene therapy for type I glycogen storage diseases. Curr Gene Ther 2007; 7: 79-88.

Glycogen storage disease type 1a: a case report

Year 2010, Volume: 32 Issue: 1, 115 - 117, 11.03.2010

Abstract

Abstract

Glycogen storage disease type Ia (GSD Ia) is a rare autosomal disorder. Type I is the most serious of all hepatic glycogenosis because it leads to a complet blockage of glucose releases from liver. The production of glucose from glycogen or glyconeogenesis is impaired. The most marked characteristic of the disease is severe fasting hypoglycemia with concomitant lactic acidosis, elevation of free fatty acids, hyperlipemia, elevated transaminases, hyperuricemia and metabolic acidosis. We report a 4-month-old female case which we described a glycogen storage disease type Ia based on clinical and laboratory studies.

Keywords: Glycogen storage disease type Ia, GSD Ia

 

Özet

Glikojen depo hastalığı tip Ia nadir görülen otozomal bir hastalıktır. Tip I, hepatik glikojenozlar içerisinde, glukozun karaciğerden salınmasında tam bir blok olduğu için en ağır formudur. Glikozun, glikoneogenez veya glikojenden üretimi bozulmuştur. Hastalığın en belirgin özelliği ağır açlık hipoglisemisi ile birlikte laktik asidoz, serbest yağ asitleri yüksekliği, hiperlipemi, karaciğer enzimlerinin yüksekliği, hiperürisemi ve metabolik asidozdur. Bu yazıda, laboratuar ve klinik bulgulara dayanarak, glikojen depo hastalığı tip Ia olarak tanımladığımız dört aylık bir kız olguyu sunduk.

Anahtar Sözcükler: Glikojen depo hastalığı tip Ia

References

  • Hoffman GF, Nyhan W, Zschocke J, Kahler SG, Mayatepek E. Inherited Metabolic Diseases. A Wolter Kluwer Company, 2002; 210-4.
  • Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K. Glycogen storage disease type Ia molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopicalli transcribed mRNA from lymphoblastoid cells. Am J Med Genet 2000; 91: 107-12.
  • Chiang SC, Lee MY, Chung MH, Wang TR, Ko TM, Hwu WL. Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia. J Hum Genet 2000: 45; 197-9.
  • Terzıoglu M, Emre S, Ozen H, Saltık IN, Kocak N, Ciliv G, Yuce A, Gurakan F. Glucose-6- phosphatase gene mutations in Turkish patients with glycogen storage disease type Ia. J Inherit Metab Dis 2001; 24: 881-2.
  • Huner G, Podskarbi T, Schutz M, Baykal T, Sarbat G, Shin YS, Demirkol M. Molecular aspects of glycogen storage disease type Ia in Turkish patients. J Inherit Metab Dis 1998; 21: 445-6.
  • Chou JY, Mansfield BC. Gene therapy for type I glycogen storage diseases. Curr Gene Ther 2007; 7: 79-88.
There are 6 citations in total.

Details

Primary Language English
Journal Section Case Reports
Authors

Adnan Ayvaz

Fatos Tanzer

Publication Date March 11, 2010
Published in Issue Year 2010Volume: 32 Issue: 1

Cite

AMA Ayvaz A, Tanzer F. Glycogen storage disease type 1a: a case report. CMJ. March 2010;32(1):115-117.