- Section 1 Patients and their treatment
- Section 2 Background to medicine
- Section 3 Cell biology
- Section 4 Immunological mechanisms
- Section 5 Principles of clinical oncology
- Section 6 Old age medicine
- Section 7 Pain and palliative care
- Section 8 Infectious diseases
- Section 9 Sexually transmitted diseases
- Section 10 Environmental medicine, occupational medicine, and poisoning
- Section 11 Nutrition
- Section 12 Metabolic disorders
- 12.1 The inborn errors of metabolism: General aspects
- 12.2 Protein-dependent inborn errors of metabolism
- 12.3 Disorders of carbohydrate metabolism
- 12.3.1 Glycogen storage diseases
- 12.3.2 Inborn errors of fructose metabolism
- 12.3.3 Disorders of galactose, pentose, and pyruvate metabolism
- 12.4 Disorders of purine and pyrimidine metabolism
- 12.5 The porphyrias
- 12.6 Lipid disorders
- 12.7 Trace metal disorders
- 12.8 Lysosomal disease
- 12.9 Disorders of peroxisomal metabolism in adults
- 12.10 Hereditary disorders of oxalate metabolism: The primary hyperoxalurias
- 12.11 A physiological approach to acid–base disorders: The roles of ion transport and body fluid compartments
- 12.12 The acute phase response, hereditary periodic fever syndromes, and amyloidosis
- 12.13 <span xml:lang="ell">α</span><sub>1</sub>-Antitrypsin deficiency and the serpinopathies
- Section 13 Endocrine disorders
- Section 14 Medical disorders in pregnancy
- Section 15 Gastroenterological disorders
- Section 16 Cardiovascular disorders
- Section 17 Critical care medicine
- Section 18 Respiratory disorders
- Section 19 Rheumatological disorders
- Section 20 Disorders of the skeleton
- Section 21 Disorders of the kidney and urinary tract
- Section 22 Haematological disorders
- Section 23 Disorders of the skin
- Section 24 Neurological disorders
- Section 25 Disorders of the eye
- Section 26 Psychiatric and drug-related disorders
- Section 27 Forensic medicine
- Section 28 Sport and exercise medicine
- Section 29 Biochemistry in medicine
- Section 30 Acute medicine
(p. 1985) Disorders of carbohydrate metabolism
Glycogen is a highly branched glucose polymer with a compacted structure found predominantly in liver and muscle. Liver glycogen is important in the maintenance of euglycaemia during fasting; muscle glycogen is an immediate source of glucose for energy production during exercise. Genetic disorders affecting proteins that regulate glycogen metabolism and transport, as well as those which catalyse its biosynthesis and breakdown, cause marked accumulation of glycogen in diverse tissues, and pathological glycogen often has an abnormal macromolecular structure. Depending on the enzyme system involved, diseases of glycogen metabolism principally affect liver and muscle. Clinical features are related to pathological glycogen in tissues and/or failure to release glucose. Glycogen storage is associated with organomegaly and tissue injury. Fasting hypoglycaemia occurs where hepatic breakdown of glycogen is impaired. Glycogen diseases that affect muscle usually present with rhabdomyolysis, exercise intolerance, and muscle pain or weakness. Formerly, diseases of glycogen metabolism were diagnosed by showing excess storage of glycogen in the tissue of interest, accompanied by reduced activity of particular glycogen-metabolizing enzymes. Currently, where available, molecular analysis of genomic DNA is the preferred method for providing a definitive diagnosis. The mainstay of treatment of glycogen diseases affecting the liver is dietary, including pre-emptive management of hypoglycaemia that is readily provoked by fasting. Dietary interventions may also ameliorate some of the glycogen diseases that affect muscle, and weakness and pain after exertion can be improved by graduated exercise programmes in some patients.
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- Section 1 Patients and their treatment
- Section 2 Background to medicine
- Section 3 Cell biology
- Section 4 Immunological mechanisms
- Section 5 Principles of clinical oncology
- Section 6 Old age medicine
- Section 7 Pain and palliative care
- Section 8 Infectious diseases
- Section 9 Sexually transmitted diseases
- Section 10 Environmental medicine, occupational medicine, and poisoning
- Section 11 Nutrition
- Section 12 Metabolic disorders
- 12.1 The inborn errors of metabolism: General aspects
- 12.2 Protein-dependent inborn errors of metabolism
- 12.3 Disorders of carbohydrate metabolism
- 12.3.1 Glycogen storage diseases
- 12.3.2 Inborn errors of fructose metabolism
- 12.3.3 Disorders of galactose, pentose, and pyruvate metabolism
- 12.4 Disorders of purine and pyrimidine metabolism
- 12.5 The porphyrias
- 12.6 Lipid disorders
- 12.7 Trace metal disorders
- 12.8 Lysosomal disease
- 12.9 Disorders of peroxisomal metabolism in adults
- 12.10 Hereditary disorders of oxalate metabolism: The primary hyperoxalurias
- 12.11 A physiological approach to acid–base disorders: The roles of ion transport and body fluid compartments
- 12.12 The acute phase response, hereditary periodic fever syndromes, and amyloidosis
- 12.13 <span xml:lang="ell">α</span><sub>1</sub>-Antitrypsin deficiency and the serpinopathies
- Section 13 Endocrine disorders
- Section 14 Medical disorders in pregnancy
- Section 15 Gastroenterological disorders
- Section 16 Cardiovascular disorders
- Section 17 Critical care medicine
- Section 18 Respiratory disorders
- Section 19 Rheumatological disorders
- Section 20 Disorders of the skeleton
- Section 21 Disorders of the kidney and urinary tract
- Section 22 Haematological disorders
- Section 23 Disorders of the skin
- Section 24 Neurological disorders
- Section 25 Disorders of the eye
- Section 26 Psychiatric and drug-related disorders
- Section 27 Forensic medicine
- Section 28 Sport and exercise medicine
- Section 29 Biochemistry in medicine
- Section 30 Acute medicine