- 1 On being a patient
- 2 Modern medicine: foundations, achievements, and limitations
- 3 Global patterns of disease and medical practice
- 4 Cell biology
- 5 Immunological mechanisms
- 6 Principles of clinical oncology
- 7 Infection
- 8 Sexually transmitted diseases and sexual health
- 9 Chemical and physical injuries and environmental factors and disease
- 10 Clinical pharmacology
- 11 Nutrition
- 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
- 12.4 Disorders of purine and pyrimidine metabolism
- 12.5 The porphyrias
- 12.6 Lipid and lipoprotein 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 Disturbances of acid–base homeostasis
- 12.12 The acute phase response, amyloidoses and familial Mediterranean fever
- 12.13 <span xml:lang="ell">α</span><sub>1</sub>-Antitrypsin deficiency and the serpinopathies
- 13 Endocrine disorders
- 14 Medical disorders in pregnancy
- 15 Gastroenterological disorders
- 16 Cardiovascular disorders
- 17 Critical care medicine
- 18 Respiratory disorders
- 19 Rheumatological disorders
- 20 Disorders of the skeleton
- 21 Disorders of the kidney and urinary tract
- 22 Disorders of the blood
- 23 Disorders of the skin
- 24 Neurological disorders
- 25 The eye
- 26 Psychiatry and drug related problems
- 27 Forensic medicine
- 28 Sports medicine
- 29 Geratology
- 30 Pain
- 31 Palliative medicine
- 32 Biochemistry in medicine
- 33 Acute medicine
(p. 1549) The inborn errors of metabolism: general aspects
- Chapter:
- (p. 1549) The inborn errors of metabolism: general aspects
- Author(s):
Richard W.E. Watts
and T.M. Cox
- DOI:
- 10.1093/med/9780199204854.003.1201_update_001
Update:
Significant alterations have been made throughout this chapter to reflect recent developments in our understanding of the genome, inborn errors of metabolism, and potential treatments.
Historical perspective—inborn errors of metabolism were first recognized by Archibald Garrod, whose studies illustrated the dynamic aspects of human biochemistry and how unitary hereditary factors caused variation in the turnover of physiological metabolites derived from dietary components. He proposed that the activity of enzymes involved in human metabolism (e.g. of tyrosine degradation) were subject to control by specific genes, and several of the disorders studied by him were subsequently shown to be the result of block at some point in normal metabolism. He also noted the importance of consanguinity in the clinical expression of rare genetic variants which behave as recessive human disease traits....
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- 1 On being a patient
- 2 Modern medicine: foundations, achievements, and limitations
- 3 Global patterns of disease and medical practice
- 4 Cell biology
- 5 Immunological mechanisms
- 6 Principles of clinical oncology
- 7 Infection
- 8 Sexually transmitted diseases and sexual health
- 9 Chemical and physical injuries and environmental factors and disease
- 10 Clinical pharmacology
- 11 Nutrition
- 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
- 12.4 Disorders of purine and pyrimidine metabolism
- 12.5 The porphyrias
- 12.6 Lipid and lipoprotein 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 Disturbances of acid–base homeostasis
- 12.12 The acute phase response, amyloidoses and familial Mediterranean fever
- 12.13 <span xml:lang="ell">α</span><sub>1</sub>-Antitrypsin deficiency and the serpinopathies
- 13 Endocrine disorders
- 14 Medical disorders in pregnancy
- 15 Gastroenterological disorders
- 16 Cardiovascular disorders
- 17 Critical care medicine
- 18 Respiratory disorders
- 19 Rheumatological disorders
- 20 Disorders of the skeleton
- 21 Disorders of the kidney and urinary tract
- 22 Disorders of the blood
- 23 Disorders of the skin
- 24 Neurological disorders
- 25 The eye
- 26 Psychiatry and drug related problems
- 27 Forensic medicine
- 28 Sports medicine
- 29 Geratology
- 30 Pain
- 31 Palliative medicine
- 32 Biochemistry in medicine
- 33 Acute medicine