Dictionary of Human Evolution and Biology

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Inborn Error Of Metabolism

1. concept suggested by Archibald Garrod that many inherited anomalies are due to alterations in biochemical pathways.

2. any genetically determined biochemical disorder in which a specific protein defect produces a metabolic block; most are autosomal recessive disorders (e.g. Tay-Sachs disease), but some are autosomal dominant (e.g. achondroplasia), or sex-linked defects (e.g. hemophilia).

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