Preemptive liver–kidney transplantation in von Gierke disease: a case report
A Marega, C Fregonese, P Tulissi, C Vallone… - Transplantation …, 2011 - Elsevier
Type 1a glycogen storage disease (GSD 1a), or von Gierke disease, is a rare, autosomal-
recessive disease caused by a deficiency of glucose-6-phosphatase, which leads to
glycogen accumulation in the liver, kidney, and intestinal mucosa. Clinical manifestations
include hypoglycemia, growth retardation, hepatomegaly, lactic acidemia, hyperlipidemia,
and hyperuricemia. Long-term complications include renal disease, gout, osteoporosis,
pulmonary hypertension, short stature, and hepatocellular adenomas, which may undergo …
recessive disease caused by a deficiency of glucose-6-phosphatase, which leads to
glycogen accumulation in the liver, kidney, and intestinal mucosa. Clinical manifestations
include hypoglycemia, growth retardation, hepatomegaly, lactic acidemia, hyperlipidemia,
and hyperuricemia. Long-term complications include renal disease, gout, osteoporosis,
pulmonary hypertension, short stature, and hepatocellular adenomas, which may undergo …