Inborn errors of carbohydrate metabolism

Fayez K Ghishan, Mona Zawaideh

Research output: Chapter in Book/Report/Conference proceedingChapter

4 Citations (Scopus)

Abstract

This chapter deals with three inborn errors of carbohydrate metabolism that lead to hepatic dysfunction: Galactosemia, hereditary fructose intolerance (HFI), and glycogen storage disease (GSD) types I, III, and IV. The clinical presentation of such patients includes varying degrees of hypoglycemia, acidosis, growth failure, and hepatic dysfunction. Appropriate steps in obtaining clinical history, physical examination, and laboratory evaluation support a definitive diagnosis. Advances in biochemistry and molecular biology, which have made significant contributions toward better understanding of the molecular defects underlying these disorders, are anticipated to result eventually in the development of newer treatment strategies. The newer information is highlighted in this chapter. GALACTOSEMIA The first detailed characterization of a galactose-intolerant individual was provided by Mason and Turner in 1935 [1]. Since then, three distinct disorders of galactose metabolism and several variant forms of the disease have been identified. These disorders are transmitted by autosomal recessive inheritance and are expressed as a cellular deficiency of one of three enzymes in the metabolic pathway through which galactose is converted to glucose: Galactose-1-phosphate uridyl transferase, galactokinase, and uridine diphosphate (UDP) galactose-4-epimerase. The terms transferase deficiency galactosemia, galactokinase deficiency galactosemia, and epimerase deficiency galactosemia traditionally have been used to distinguish between the various forms of the disease. Until recently, the genetic basis of galactosemia was discerned primarily through quantification of red cell activity of these enzymes.

Original languageEnglish (US)
Title of host publicationLiver Disease in Children, Third Edition
PublisherCambridge University Press
Pages595-625
Number of pages31
ISBN (Print)9780511547409, 9780521856577
DOIs
StatePublished - Jan 1 2007

Fingerprint

Inborn Errors Carbohydrate Metabolism
Galactosemias
Galactose
Glycogen Storage Disease Type IV
Glycogen Storage Disease Type III
UDPglucose-Hexose-1-Phosphate Uridylyltransferase
Fructose Intolerance
Galactokinase
Glycogen Storage Disease Type I
Uridine Diphosphate Galactose
Liver Failure
Enzymes
Transferases
Acidosis
Metabolic Networks and Pathways
Hypoglycemia
Biochemistry
Physical Examination
Molecular Biology

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Ghishan, F. K., & Zawaideh, M. (2007). Inborn errors of carbohydrate metabolism. In Liver Disease in Children, Third Edition (pp. 595-625). Cambridge University Press. https://doi.org/10.1017/CBO9780511547409.027

Inborn errors of carbohydrate metabolism. / Ghishan, Fayez K; Zawaideh, Mona.

Liver Disease in Children, Third Edition. Cambridge University Press, 2007. p. 595-625.

Research output: Chapter in Book/Report/Conference proceedingChapter

Ghishan, FK & Zawaideh, M 2007, Inborn errors of carbohydrate metabolism. in Liver Disease in Children, Third Edition. Cambridge University Press, pp. 595-625. https://doi.org/10.1017/CBO9780511547409.027
Ghishan FK, Zawaideh M. Inborn errors of carbohydrate metabolism. In Liver Disease in Children, Third Edition. Cambridge University Press. 2007. p. 595-625 https://doi.org/10.1017/CBO9780511547409.027
Ghishan, Fayez K ; Zawaideh, Mona. / Inborn errors of carbohydrate metabolism. Liver Disease in Children, Third Edition. Cambridge University Press, 2007. pp. 595-625
@inbook{3eda23b5e83b4546a56b28b53644fd7e,
title = "Inborn errors of carbohydrate metabolism",
abstract = "This chapter deals with three inborn errors of carbohydrate metabolism that lead to hepatic dysfunction: Galactosemia, hereditary fructose intolerance (HFI), and glycogen storage disease (GSD) types I, III, and IV. The clinical presentation of such patients includes varying degrees of hypoglycemia, acidosis, growth failure, and hepatic dysfunction. Appropriate steps in obtaining clinical history, physical examination, and laboratory evaluation support a definitive diagnosis. Advances in biochemistry and molecular biology, which have made significant contributions toward better understanding of the molecular defects underlying these disorders, are anticipated to result eventually in the development of newer treatment strategies. The newer information is highlighted in this chapter. GALACTOSEMIA The first detailed characterization of a galactose-intolerant individual was provided by Mason and Turner in 1935 [1]. Since then, three distinct disorders of galactose metabolism and several variant forms of the disease have been identified. These disorders are transmitted by autosomal recessive inheritance and are expressed as a cellular deficiency of one of three enzymes in the metabolic pathway through which galactose is converted to glucose: Galactose-1-phosphate uridyl transferase, galactokinase, and uridine diphosphate (UDP) galactose-4-epimerase. The terms transferase deficiency galactosemia, galactokinase deficiency galactosemia, and epimerase deficiency galactosemia traditionally have been used to distinguish between the various forms of the disease. Until recently, the genetic basis of galactosemia was discerned primarily through quantification of red cell activity of these enzymes.",
author = "Ghishan, {Fayez K} and Mona Zawaideh",
year = "2007",
month = "1",
day = "1",
doi = "10.1017/CBO9780511547409.027",
language = "English (US)",
isbn = "9780511547409",
pages = "595--625",
booktitle = "Liver Disease in Children, Third Edition",
publisher = "Cambridge University Press",

}

TY - CHAP

T1 - Inborn errors of carbohydrate metabolism

AU - Ghishan, Fayez K

AU - Zawaideh, Mona

PY - 2007/1/1

Y1 - 2007/1/1

N2 - This chapter deals with three inborn errors of carbohydrate metabolism that lead to hepatic dysfunction: Galactosemia, hereditary fructose intolerance (HFI), and glycogen storage disease (GSD) types I, III, and IV. The clinical presentation of such patients includes varying degrees of hypoglycemia, acidosis, growth failure, and hepatic dysfunction. Appropriate steps in obtaining clinical history, physical examination, and laboratory evaluation support a definitive diagnosis. Advances in biochemistry and molecular biology, which have made significant contributions toward better understanding of the molecular defects underlying these disorders, are anticipated to result eventually in the development of newer treatment strategies. The newer information is highlighted in this chapter. GALACTOSEMIA The first detailed characterization of a galactose-intolerant individual was provided by Mason and Turner in 1935 [1]. Since then, three distinct disorders of galactose metabolism and several variant forms of the disease have been identified. These disorders are transmitted by autosomal recessive inheritance and are expressed as a cellular deficiency of one of three enzymes in the metabolic pathway through which galactose is converted to glucose: Galactose-1-phosphate uridyl transferase, galactokinase, and uridine diphosphate (UDP) galactose-4-epimerase. The terms transferase deficiency galactosemia, galactokinase deficiency galactosemia, and epimerase deficiency galactosemia traditionally have been used to distinguish between the various forms of the disease. Until recently, the genetic basis of galactosemia was discerned primarily through quantification of red cell activity of these enzymes.

AB - This chapter deals with three inborn errors of carbohydrate metabolism that lead to hepatic dysfunction: Galactosemia, hereditary fructose intolerance (HFI), and glycogen storage disease (GSD) types I, III, and IV. The clinical presentation of such patients includes varying degrees of hypoglycemia, acidosis, growth failure, and hepatic dysfunction. Appropriate steps in obtaining clinical history, physical examination, and laboratory evaluation support a definitive diagnosis. Advances in biochemistry and molecular biology, which have made significant contributions toward better understanding of the molecular defects underlying these disorders, are anticipated to result eventually in the development of newer treatment strategies. The newer information is highlighted in this chapter. GALACTOSEMIA The first detailed characterization of a galactose-intolerant individual was provided by Mason and Turner in 1935 [1]. Since then, three distinct disorders of galactose metabolism and several variant forms of the disease have been identified. These disorders are transmitted by autosomal recessive inheritance and are expressed as a cellular deficiency of one of three enzymes in the metabolic pathway through which galactose is converted to glucose: Galactose-1-phosphate uridyl transferase, galactokinase, and uridine diphosphate (UDP) galactose-4-epimerase. The terms transferase deficiency galactosemia, galactokinase deficiency galactosemia, and epimerase deficiency galactosemia traditionally have been used to distinguish between the various forms of the disease. Until recently, the genetic basis of galactosemia was discerned primarily through quantification of red cell activity of these enzymes.

UR - http://www.scopus.com/inward/record.url?scp=77958135119&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77958135119&partnerID=8YFLogxK

U2 - 10.1017/CBO9780511547409.027

DO - 10.1017/CBO9780511547409.027

M3 - Chapter

SN - 9780511547409

SN - 9780521856577

SP - 595

EP - 625

BT - Liver Disease in Children, Third Edition

PB - Cambridge University Press

ER -