ⓘ Inborn errors of carbohydrate metabolism

                                     

ⓘ Inborn errors of carbohydrate metabolism

Inborn errors of carbohydrate metabolism are inborn error of metabolism that affect the catabolism and anabolism of carbohydrates.

An example is lactose intolerance.

The carbohydrates constitute the bulk of the human diet. These carbohydrates consist of three main monosaccharides: glucose, fructose and galactose, in addition Glycogen is the storage form of carbohydrates in the human body. The inability to effectively use these molecules account for the majority of inborn errors of human carbohydrates metabolism.

                                     
  • Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism The majority are due to defects of single
  • an inborn error of carbohydrate metabolism in 1908. It is associated with a deficiency of L - xylulose reductase, necessary for xylitol metabolism L - Xylulose
  • Carbohydrate metabolism is the whole of the biochemical processes responsible for the metabolic formation, breakdown, and interconversion of carbohydrates
  • Inborn Metabolic Diseases. Diagnosis and Treatment fourth ed. Springer. p. 137. ISBN 978 - 3 - 540 - 28783 - 4. Tran C April 2017 Inborn Errors of Fructose
  • liver cells. GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism genetically defective enzymes
  • Premature ovarian failure Cataract Galactosemic cataract Other Inborn errors of carbohydrate metabolism Goppert F. 1917 Galaktosurie nach Milchzuckergabe bei
  • an autosomal recessive metabolic disorder and inborn error of metabolism specifically of carbohydrates characterized by a deficiency in glycogen debranching
  • galactosemia is the most common type of galactosemia, an inborn error of galactose metabolism caused by a deficiency of the enzyme galactose - 1 - phosphate
  • Salvatore Darryl C. De Vivo October 1998 Diseases of Carbohydrate Fatty Acid and Mitochondrial Metabolism In George J. Siegel et al. eds. Basic Neurochemistry:
  • Hereditary fructose intolerance is an inborn error of fructose metabolism caused by a deficiency of the enzyme aldolase B. Individuals affected with HFI
  • step of galactose phosphorylation in the Leloir pathway of intermediate metabolism Galactokinase deficiency is one of the three inborn errors of metabolism