Normoglycemic Ketonemia as Biochemical Presentation in Ketotic Glycogen Storage Disease.

ABSTRACT:

Background

According to the textbooks, the ketotic glycogen storage disease (GSD) types 0, III, VI, IX, and XI are associated with fasting ketotic hypoglycemia and considered milder as gluconeogenesis is intact.

Methods

A retrospective cohort study of biochemical profiles from supervised clinical fasting studies is performed in ketotic GSD patients in our metabolic center. For data analysis, hypoglycemia was defined as plasma glucose concentration <2.6 mmol/L. Total KB was defined as the sum of blood acetoacetate and β-hydroxybutyrate concentrations. If the product of glucose and KB concentrations was greater than 10, a ketolysis defect was suspected.

Results

Data could be collected from 13 fasting studies in 12 patients with GSD III (n = 4), GSD VI (n = 3), and GSD I

SUBMITTER: Hoogeveen IJ 

PROVIDER: S-EPMC5059202 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature