Dissecting disgust and fear in chimpanzees: From facilitation to disruption of cognitive processes.

Glycogen storage diseases comprise a heterogeneous group of inherited disorders caused by defects in enzymes or transport proteins involved in glycogen metabolism, leading to abnormal accumulation of this polysaccharide in various tissues. Glycogen storage disease type I (GSDI) is an autosomal recessive inherited disorder, first described by von Gierke in 1929, with an estimated prevalence of approximately 1 per 100,000 to 300,000 individuals., , , This condition results from a defect in the glucose-6-phosphatase (G6Pase) enzyme complex, which plays a central role in both glycogenolysis and gluconeogenesis by catalyzing the hydrolysis of glucose-6-phosphate (G6P) to generate free glucose. G6Pase is a multicomponent complex composed of a catalytic subunit located on the luminal side of the endoplasmic reticulum and one or more membrane transporters. Defects in the catalytic subunit are classified as GSDIa, whereas deficiency in the microsomal transport protein is classified as GSDIb. Impaired G6Pase activity in the liver, kidneys, and intestine leads to glycogen accumulation in these organs as well as to inadequate glucose production (). Pathophysiology and maternal–fetal implications of glycogen storage disease type Ia during pregnancy. Schematic representation of the pathophysiology of glycogen storage disease type Ia caused by deficiency of glucose-6-phosphatase, leading to impaired hepatic glucose release and recurrent hypoglycemia. Maternal metabolic complications include hypertriglyceridemia, renal disease, hepatic adenomas, and hematologic abnormalities. During pregnancy, these metabolic disturbances are associated with increased risks of fetal growth restriction, hypertensive disorders of pregnancy, and preterm birth. Prenatal genetic counseling is recommended due to the autosomal recessive inheritance and the potential risk of neonatal hypoglycemia.