Clinical and Biochemical Findings Before and After Portacaval Shunt in a Girl with Type Ib Glycogen Storage Disease

Glycogen storage disease type Ib: A defect in the glucose-6-phosphate transport system in microsomal membrane

“…Our finding mentioned above were subsequently confirmed by other investigators Lange et al, 1980;Corbeel et al, 1981;Schaub et aL, 1981). And it is now established that primary lesion of glycogen storage disease Table 3.…”

Glycogen Storage Disease Type 1b: Microsomal Glucose-6-Phosphatase System in Two Patients with Different Clinical Findings

“…Since then, there have been several reports in which a defect of the G-6-P transport system was confirmed (7,9,12,20). We observed three patients with GSD type l b including two siblings.…”

The ECK fistula in animals and humans

“…It is of interest that Corbeel et al 137 of Belgium found a striking increase of active glucose-6-phosphatase after portacaval shunt in a child with type Ib GSD. It was speculated that the portal diversion had unmasked a nonfunctional glucose-6-phosphatase by improving the defective transport of this enzyme across microsomal membranes.…”

“…136,137 In 1972, Folkman et al 138 added an important therapeutic dimension by showing how preoperative parenteral hyperalimentation could reduce the operative risk by normalizing preexisting hepatomegaly, acidosis, and other abnormalities, including hvperlipidemia. In an extension of this concept, Greene et al 139 and Crigler and Folkman 140 showed that continuous or frequent feeding (including overnight alimentation) is more than an alternative to portacaval shunt in the treatment of this disorder-it is, rather, the therapy of choice.…”

“…Correction of other metabolic defects was observed, including abnormal bleeding, uric acid elevations, and abnormal calcium metabolism. 19,66,[135][136][137][138] Growth-All ten of our patients had growth retardation before portacaval shunt. Afterward, height increases, which in most cases had virtually ceased, occurred during the first postoperative year at the rates listed in Table 2, approximately 0.5 cm/month.…”