Glycogen Storage Diseases

George Henry Sack

doi:10.1016/B978-0-12-378630-2.00043-8

Glycogen Storage Diseases

George Henry Sack

School of Medicine

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

Glycogen storage diseases (GSDs) comprise a group of rare inherited disorders caused by dysfunction of the synthesis or degradation of glycogen. Manifestations of GSDs are largely related to their direct effects on liver and/or muscle metabolism. The medical consequences of GSDs directly relate to glycogen's central role in glucose homeostasis. Analyzing this group of disorders has identified most of the enzymes directly related to glycogen metabolism. Recognizing the presence and consequences of GSD is the basis for rational treatment of affected individuals.

Original language	English (US)
Title of host publication	Encyclopedia of Biological Chemistry
Subtitle of host publication	Second Edition
Publisher	Elsevier Inc.
Pages	428-433
Number of pages	6
ISBN (Electronic)	9780123786319
ISBN (Print)	9780123786302
DOIs	https://doi.org/10.1016/B978-0-12-378630-2.00043-8
State	Published - Feb 15 2013

Keywords

CAMP
Glucagon
Glucose
Glycogen
Glycogen synthase kinase
Homeostasis
Insulin
Kinase
Liver
Muscle
Phosphatase
Phosphorylase

ASJC Scopus subject areas

General Biochemistry, Genetics and Molecular Biology

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10.1016/B978-0-12-378630-2.00043-8

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title = "Glycogen Storage Diseases",

abstract = "Glycogen storage diseases (GSDs) comprise a group of rare inherited disorders caused by dysfunction of the synthesis or degradation of glycogen. Manifestations of GSDs are largely related to their direct effects on liver and/or muscle metabolism. The medical consequences of GSDs directly relate to glycogen's central role in glucose homeostasis. Analyzing this group of disorders has identified most of the enzymes directly related to glycogen metabolism. Recognizing the presence and consequences of GSD is the basis for rational treatment of affected individuals.",

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AB - Glycogen storage diseases (GSDs) comprise a group of rare inherited disorders caused by dysfunction of the synthesis or degradation of glycogen. Manifestations of GSDs are largely related to their direct effects on liver and/or muscle metabolism. The medical consequences of GSDs directly relate to glycogen's central role in glucose homeostasis. Analyzing this group of disorders has identified most of the enzymes directly related to glycogen metabolism. Recognizing the presence and consequences of GSD is the basis for rational treatment of affected individuals.

KW - CAMP

KW - Glucagon

KW - Glucose

KW - Glycogen

KW - Glycogen synthase kinase

KW - Homeostasis

KW - Insulin

KW - Kinase

KW - Liver

KW - Muscle

KW - Phosphatase

KW - Phosphorylase

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DO - 10.1016/B978-0-12-378630-2.00043-8

M3 - Chapter

AN - SCOPUS:85042740022

SN - 9780123786302

SP - 428

EP - 433

BT - Encyclopedia of Biological Chemistry

PB - Elsevier Inc.

ER -

Glycogen Storage Diseases

Abstract

Keywords

ASJC Scopus subject areas

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