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This appendix presents selected examples of inherited diseases affecting basic biochemical processes. Diseases are categorized as per their involvement with the four basic categories of biochemical molecules (amino acids/proteins, carbohydrates/glycoproteins, lipids/glycolipids, and nucleic acids/deoxyribo-nucleic acid). Additional categories of mitochondrial enzymes and diseases affecting bilirubin, blood clotting, steroid hormones, and vitamins/minerals/electrolytes are also provided. Inheritance is predominately autosomal recessive unless otherwise stated. Minor variations of these genetic diseases may not be noted.

For further information, the reader is referred to the Online Mendelian Inheritance in Man® (, “a comprehensive compendium of more than 12,000 human genes and genetic phenotypes” and Hereditary Ocular Disease (, “a database designed as a portal site containing summary clinical descriptions with links to online information” containing more than 600 entries.


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