glycogen and Diseases-in-Twins

Albuterol overdose can lead to tachycardia, hypotension, tremor, hypokalemia, and hyperglycemia in children. Hypoglycemia had been previously reported in only one child. We describe a 3-year-old boy who ingested high-dose albuterol in this report. On arrival to the emergency department, the child was agitated and had noticeable restlessness, sinus tachycardia, mild hypokalemia (3.2 mEq/L), and hyperglycemia (187 mg/dL). Activated charcoal and intravenous hydration were given, and electrocardiogram monitoring was performed. Sinus tachycardia resolved within 4 to 6 hours. Hypoglycemia (45 mg/dL) was identified 4 hours after admission. The child recovered uneventfully within 24 hours with glucose replacement. This case suggests that hypoglycemia could be a late complication of acute albuterol overdose; thus, the period of observation should be extended in these cases.

Topics: Adrenergic beta-Agonists; Albuterol; Charcoal; Child, Preschool; Diseases in Twins; Drug Overdose; Fluid Therapy; Glucose; Glycogen; Humans; Hyperinsulinism; Hypoglycemia; Hypokalemia; Male; Psychomotor Agitation; Tachycardia, Sinus; Time Factors; Tremor

Acid maltase deficiency is described in non-identical adult twins. The onset of the disease can be traced into late infancy; the clinical picture is one of severe muscular dystrophy; respiratory insuficiency was the cause of death in one case. The autopsy showed the central nervous system, heart and liver to be spared. Glycogen filled vacuoles are found in skin, mesenchymal cells, small nerves and skeletal muscles. The light microscopic study of 9 different muscles showed extremely variable involvement ranging from normal appearance to overt vacuolization. A 6--20% residual acid alpha-glucosidase activity was found in visceral organs, cultured fibroblasts and in some skeletal muscles. No satisfactory explanation can be given why this generalized acid alpha-glucosidase deficiency produces a selective involvement of skeletal muscles. If compared with infantile AMD (Pompe's disease) our cases have a much higher residual acid alpha-glucosidase activity and show the presence of an antigenically detectable protein. From our study and from a similar report in the literature (de Barsy et al., 1975), it appears that a combined approach of light microscopy, electron microscopy and biochemical analysis (determination of acid alpha-glucosidase) is necessary to make a diagnosis of AMD in adults.

Topics: Adult; Diseases in Twins; Female; Fibroblasts; Glucosidases; Glycogen; Glycogen Storage Disease; Glycogen Storage Disease Type II; Glycoside Hydrolases; Humans; Male; Muscles; Muscular Atrophy; Pregnancy; Skin; Twins, Dizygotic

Topics: Diseases in Twins; Glucosephosphate Dehydrogenase Deficiency; Glucosephosphates; Glycogen; Glycogen Storage Disease; Humans; Liver Glycogen; Twins, Monozygotic