Carbohydrate Metabolism and Glycogen Storage
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Carbohydrate Metabolism and Glycogen Storage conditions
Andersen Disease (Type IV)Andersen Disease Type IV is a glycogen storage disorder caused by branching enzyme deficiency, leading to abnormal glycogen with fewer branches and liver dysfunction.Classic GalactosemiaClassic Galactosemia is a genetic disorder causing GALT enzyme deficiency, leading to toxic galactose-1-phosphate buildup and early infant liver dysfunction.Cori Disease (Type III)Cori Disease (Type III) is a glycogen storage disorder caused by debranching enzyme deficiency, leading to abnormal glycogen with short outer branches.Essential FructosuriaEssential Fructosuria is a benign hereditary disorder caused by fructokinase deficiency, leading to harmless fructose accumulation in urine without symptoms.Galactokinase DeficiencyGalactokinase deficiency is a rare inherited disorder causing impaired galactose metabolism, leading to cataracts and elevated galactitol levels in the blood.Hereditary Fructose IntoleranceHereditary Fructose Intolerance is a genetic disorder causing aldolase B deficiency, leading to hypoglycemia and liver dysfunction after fructose ingestion.Lactase Deficiency (Acquired)Acquired lactase deficiency results from intestinal mucosal injury reducing lactase enzyme, causing lactose intolerance with diarrhea and bloating after dairy intake.Lactase Deficiency (Age-Dependent)Lactase Deficiency (Age-Dependent) is a decrease in lactase enzyme after infancy causing lactose intolerance with symptoms like bloating, diarrhea, and abdominal pain.McArdle Disease (Type V)McArdle Disease (Type V) is a glycogen storage disorder caused by muscle phosphorylase deficiency leading to exercise intolerance, muscle cramps, and elevated creatine kinase levels.Pompe Disease (Type II)Pompe Disease (Type II) is a glycogen storage disorder caused by acid alpha-glucosidase deficiency, leading to progressive muscle weakness and cardiomyopathy.Sorbitol Dehydrogenase DeficiencySorbitol Dehydrogenase Deficiency is a rare metabolic disorder causing impaired conversion of sorbitol to fructose, leading to sorbitol accumulation and cellular damage.Von Gierke Disease (Type I)Von Gierke Disease (Type I) is a glycogen storage disorder caused by glucose-6-phosphatase deficiency, leading to hypoglycemia, hepatomegaly, and lactic acidosis.