Glycogen Storage Disease in Adults

Abstract

For GSD-Ia, hyperuricemia and pyelonephritis should be treated to prevent nephrocalcinosis and additional renal damage. For GSD-Ib, granulocyte-colony-stimulating factor may prevent bacterial infections. For GSD-III, more data are required to determine whether the myopathy and cardiomyopathy can be prevented. Most of the patients with GSD-I and GSD-III had 12 or more years of education and were either currently in school or employed.

Two cases of hepatocellular adenomatosis treated with transcatheter arterial embolization

“…It shows a slow progression but sometimes causes rupture, hemorrhage, and malignant transformation [1][2][3][4][5][6][7][8][9][10][11][12][13]. Moreover, differential diagnosis of HCA from focal nodular hyperplasia and well-differentiated HCC is sometimes difficult [5][6][7][8][9][10][11][12][13][14]. Therefore, hepatectomy is performed in patients in which HCA increases in size [11,15,16].…”

“…Although most cases of adenomas are asymptomatic and detected incidentally, HCA may undergo rupture and lead to life-threatening hemorrhage [10,11]. Malignant transformation of HCA has also been reported [11][12][13]. Furthermore, HCA is difficult to distinguish clinically from a well-differentiated hepatocellular carcinoma (HCC) [5,14].…”

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

“…Serum AST and ALT are markedly elevated in the first decade of life, but tend to decrease significantly thereafter [2]. Parameters of liver function such as albumin and prothrombin time are also normal, until the onset of overt cirrhosis which is atypical in the vast majority.…”

“…There are two major GSD III subtypes; GSD IIIa the most common subtype, accounting for ~80% of the cases where patients have both liver and muscle involvement and IIIb accounting for approximately 15% of all GSD III where patients have enzyme activity lacking only in liver. Symptoms common to both subtypes are hepatomegaly, hypoglycemia, short stature, and dyslipidemia [2]. Only patients with type IIIa have a myopathy and cardiomyopathy [2].…”

“…Symptoms common to both subtypes are hepatomegaly, hypoglycemia, short stature, and dyslipidemia [2]. Only patients with type IIIa have a myopathy and cardiomyopathy [2].…”