Adnan AYVAZ, Fatoş TANZER

Glycogen storage disease type 1a: A case report

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.

Tip 1a glikojen depo hastalığı: Olgu sunumu

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.

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