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Glossary

Starting with A for "ACE inhibitor" and continuing through to Y for "Yolk Sac Tumour", we give you succinct explanations for scientific and medical terms in clear and simple words.




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Genetic diseases
also known as hereditary diseases or conditions

Hereditary diseases which either occur more frequently than expected in a family or, as a result of spontaneous mutation, occur for the first time in a family which has previously been unaffected. Genetic diseases are observed as physical, mental or combined abnormalities. Depending on their extent, they cannot always be distinguished from acquired conditions. Genetic changes which do not necessarily lead to diseases are probably very much more frequent. These may cause a disease only when there are additional external factors, such as drugs, infections or factors linked to nutrition. Genetic diseases are often due to the lack of or changes in a single enzyme which is involved in metabolism. Genetic diseases may become evident at an early age or only late in life. Aside from enzyme deficiencies, changes in other important proteins can lead to genetic diseases, such as those related to haemoglobin and the transport and receptor proteins in cell membranes (cholesterolaemias), or blood coagulation factors.

Glossary entries:  Roche and Walter de Gruyter, Berlin