Inherited Disorders of Metabolism
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Introduction to Inherited Disorders of Metabolism
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Approach to the Patient With a Suspected Inherited Disorder of Metabolism
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Mitochondrial Oxidative Phosphorylation Disorders
- Leber hereditary optic neuropathy (LHON)
- Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS)
- Myoclonic epilepsy with ragged-red fibers (MERRF)
- Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia (CPEO)
- Neuropathy, ataxia, and retinitis pigmentosa (NARP)
- Leigh disease (subacute necrotizing encephalopathy)
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Peroxisomal Disorders
- Overview of Amino Acid and Organic Acid Metabolism Disorders
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Branched-Chain Amino Acid Metabolism Disorders
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Methionine Metabolism Disorders
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Phenylketonuria (PKU)
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Tyrosine Metabolism Disorders
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Urea Cycle Disorders
- Overview of Carbohydrate Metabolism Disorders
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Fructose Metabolism Disorders
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Galactosemia
- Glycogen Storage Diseases
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Pyruvate Metabolism Disorders
- Other Carbohydrate Metabolism Disorders
- Overview of Fatty Acid and Glycerol Metabolism Disorders
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Beta-Oxidation Cycle Disorders
- Glycerol Metabolism Disorders
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Overview of Lysosomal Storage Disorders
- Cholesteryl Ester Storage Disease and Wolman Disease
- Fabry Disease