Breath Analysis in Children with Ketogenic Glycogen Storage Diseases

The glycogen storage diseases.

Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

BACKGROUND Unexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere-protein gene disorder. Because mutations in the gene for AMP-activated protein kinase gamma2 (PRKAG2) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic cardiomyopathy, we hypothesized that hypertrophic cardiomyopathy might ...

Patients with glycogen storage diseases undergoing anesthesia: a case series

BACKGROUND Glycogen storage diseases are rare genetic disorders of glycogen synthesis, degradation, or metabolism regulation. When these patients are subjected to anesthesia, perioperative complications can develop, including hypoglycemia, rhabdomyolysis, myoglobinuria, acute renal failure, and postoperative fatigue. The objective of this study was to describe the perioperative course of a coho...

Laboratory diagnosis of the neuromuscular glycogen storage diseases.

Of the 12 known genetic disorders of glycogen metabolism, five consistently involve the neuromuscular system. Pompe's disease is a generalized, fatal, lysosomal storage disease caused by absence of acid maltase. Structurally abnormal glycogen accumulates in Forbes-Cori and Andersen's diseases, resulting from deficient debranching and branching enzymes, respectively. Exercise intolerance, muscle...

Glycogen storage disease type III in Inuit children.

Glycogen storage disease type III (GSD III) was diagnosed in 4 Inuit children (3 confirmed, 1 suspected case) at our institution over the last decade. This rare autosomal recessive disease, which results from a deficiency of the debranching enzyme required for complete degradation of the glycogen molecule, has not been previously described in this population. The possible clinical presentations...