Inborn errors of carbohydrate metabolism January 3, 2023 by All This 0 Comments Sucrose, transport(extracellular)Disaccharide catabolism – Congenital alactasia Sucrose intolerance Monosaccharide transport – Glucose-galactose malabsorption Inborn errors of renal tubular transport (Renal glycosuria) Fructose malabsorptionHexose → glucoseMonosaccharide catabolism – Fructose: Essential fructosuria Fructose intolerance Galactose/galactosemia: GALK deficiency GALT deficiency/GALE deficiencyGlucose ⇄ glycogenGlycogenesis GSD type 0 (glycogen synthase deficiency) GSD type IV (Andersen’s disease, branching enzyme deficiency) Adult polyglucosan body disease (APBD) Glycogenolysis Extralysosomal: GSD type III (Cori’s disease, debranching enzyme deficiency) GSD type VI (Hers’ disease, liver glycogen phosphorylase deficiency) GSD type V (McArdle’s disease, myophosphorylase deficiency) GSD type IX (phosphorylase kinase deficiency) Lysosomal (LSD):GSD type II (Pompe’s disease, glucosidase deficiency)Glucose ⇄ CACGlycolysis MODY 2/HHF3 GSD type VII (Tarui’s disease, phosphofructokinase deficiency) Triosephosphate isomerase deficiency Pyruvate kinase deficiency Gluconeogenesis PCD Fructose bisphosphatase deficiency GSD type I (von Gierke’s disease, glucose 6-phosphatase deficiency)Pentose phosphate pathwayGlucose-6-phosphate dehydrogenase deficiency Transaldolase deficiency6-phosphogluconate dehydrogenase deficiencyOtherHyperoxaluria Primary hyperoxaluria Pentosuria Aldolase A deficiency Share
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