[Congenital enzyme deficiency in carbohydrate metabolism. Its significance for clinical pediatrics and human biochemical genetics (author's transl)].
A review of the enzyme deficiencies of carbohydrate metabolism known at the present time is given. Through prominent clinical symptoms and consideration of food as a pathological agent, it is possible to suspect the various diseases before the results of the biochemical determinations are available. On account of the sometimes striking course, therapy can consequently be started at the earliest possible moment.
D002239:Carbohydrate Metabolism, Inborn Errors / Q000201:enzymology*; D005633:Fructose Intolerance / Q000235:genetics; D015319:Fructose-1,6-Diphosphatase Deficiency; D005690:Galactose; D005693:Galactosemias; D005953:Glycogen Storage Disease Type I; D006009:Glycogen Storage Disease Type II; D006010:Glycogen Storage Disease Type III; D006013:Glycogen Storage Disease Type VI; D006006:Glycogen Synthase / Q000172:deficiency; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007773:Lactates / Q000097:blood; D008099:Liver / Q000201:enzymology; D010770:Phosphotransferases / Q000172:deficiency; D015324:Pyruvate Carboxylase Deficiency Disease; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease; D019998:Racemases and Epimerases / Q000172:deficiency
D007773:Lactates; D006006:Glycogen Synthase; D010770:Phosphotransferases; D019998:Racemases and Epimerases; D005690:Galactose
Angeborene Enzymdefekte des Kohlenhydratstoffwechsels. Ihre Bedeutung für die klinische Pädiatrie und die biochemische Humangenetik