The potential of dietary treatment in patients with glycogen storage disease type IV

Abstract

There is paucity of literature on dietary treatment in glycogen storage disease (GSD) type IV and formal guidelines are not available. Traditionally, liver transplantation was considered the only treatment option for GSD IV. In light of the success of dietary treatment for the other hepatic forms of GSD, we have initiated this observational study to assess the outcomes of medical diets, which limit the accumulation of glycogen. Clinical, dietary, laboratory, and imaging data for 15 GSD IV patients from three centres are presented. Medical diets may have the potential to delay or prevent liver transplantation, improve growth and normalize serum aminotransferases. Individual care plans aim to avoid both hyperglycaemia, hypoglycaemia and/or hyperketosis, to minimize glycogen accumulation and catabolism, respectively. Multidisciplinary monitoring includes balancing between traditional markers of metabolic control (ie, growth, liver size, serum aminotransferases, glucose homeostasis, lactate, and ketones), liver function (ie, synthesis, bile flow and detoxification of protein), and symptoms and signs of portal hypertension.

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI

“…Liver transplantation remains the only effective treatment for patients with the progressive hepatic subtype of GSD type IV who develop liver failure. However, some patients treated by liver transplantation displayed over time extrahepatic manifestations, such as cardiomyopathy and myopathy [ 26 – 29 ].…”

“…GSD type IV patients exhibit a continuum of different phenotypes, with extremely variable clinical features. Hypoglycemia has traditionally been considered a late manifestation, related to hepatocellular dysfunction; notably, a recent report documented fasting intolerance in patients without any sign of liver involvement [ 26 ].…”

“…Fasting ketotic hypoglycemia is a hallmark of hepatic GSDs [ 26 , 61 ]. Patients with GSD type 0 and XI show also a typical post-prandial hyperglycemia [ 12 , 16 , 53 ].…”

“…Patients with GSD type 0 and XI show also a typical post-prandial hyperglycemia [ 12 , 16 , 53 ]. In GSD type IV, hypoglycemia can appear late in the clinical course, but it can be also found in patients without signs of liver disease [ 26 ]. Ketotic hypoglycemia without hepatomegaly has also been recently described in GSD type VI and IX [ 6 ].…”

Hypoglycaemia Metabolic Gene Panel Testing

“…The most severe form starts in utero with decreased fetal movements, arthrogryposis, hypoplastic lungs, and may cause perinatal death. Patients are treated with hyperglucidic diet plus cornstarch, nocturnal enteral feeding, protein enrichment, and in the more severe form, with liver transplantation ( 37 ).…”