glycogen and Deglutition-Disorders

Early weight gain by starving patients managed with total parenteral nutrition has been regarded as spurious - that is, merely an increase in body water. We designed an experiment to mimic the starved state in which glycogen stores are depleted and sodium intake is very low. The subjects were then repleted with a sodium-free, high carbohydrate intake. All subjects who received potassium gained weight and switched to a respiratory exchange ratio which suggested mainly carbohydrate oxidation. From changes in weight and total body water the weight gain was calculated to be the consequence of glycogen storage with 1 g of glycogen obligating 3.21 +/- 0.57 g water. Two patients with total dysphagia showed a similar pattern. Two subjects who did not receive potassium showed a rise in respiratory exchange ratio but failed to store glycogen. Early weight gain in patients who received high-carbohydrate feeding after starvation is a normal phenomenon and represents a return to a more hydrated state consequent upon glycogen repletion.

Topics: Body Water; Body Weight; Deglutition Disorders; Dietary Carbohydrates; Female; Glycogen; Humans; Male; Parenteral Nutrition; Parenteral Nutrition, Total; Potassium; Sodium; Starvation

Glycogen storage disorder type III (GSD III) is a rare autosomal recessive disorder resulting from a deficiency of glycogen debranching enzyme, critical in cytosolic glycogen degradation. GSD IIIa, the most common form of GSD III, primarily affects the liver, cardiac muscle, and skeletal muscle. Although skeletal muscle weakness occurs commonly in GSD IIIa, bulbar muscle involvement has not been previously reported. Here we present three GSD IIIa patients with clinical evidence of bulbar weakness based on instrumental assessment of lingual strength. Dysarthria and/or dysphagia, generally mild in severity, were evident in all three individuals. One patient also underwent correlative magnetic resonance imaging (MRI) which was remarkable for fatty infiltration at the base of the intrinsic tongue musculature, as well as abnormal expansion of the fibro-fatty lingual septum. Additionally, we provide supportive evidence of diffuse glycogen infiltration of the tongue at necropsy in a naturally occurring canine model of GSD IIIa. While further investigation in a larger group of patients with GSD III is needed to determine the incidence of bulbar muscle involvement in this condition and whether it occurs in GSD IIIb, clinical surveillance of lingual strength is recommended.

Topics: Adipose Tissue; Adult; Animals; Child; Deglutition Disorders; Dogs; Dysarthria; Female; Glycogen; Glycogen Debranching Enzyme System; Glycogen Storage Disease Type III; Humans; Middle Aged; Muscle Weakness; Muscle, Skeletal; Mutation; Tongue

Topics: Deglutition Disorders; Diagnosis, Differential; Esophageal Diseases; Gastroesophageal Reflux; Glycogen; Humans; Male; Middle Aged; Radiography

Topics: Acid Phosphatase; Adenosine Triphosphatases; Adult; Blepharoptosis; Deglutition Disorders; Facial Paralysis; Female; Glycogen; Hearing Disorders; Humans; Lipid Metabolism; Male; Microscopy, Electron; Mitochondria, Muscle; Muscles; Myofibrils; NADH, NADPH Oxidoreductases; Neuromuscular Diseases; Ophthalmoplegia; Pedigree; Speech Disorders; Syndrome