Dictionary of Human Evolution and Biology

Dictionary of Human Evolution and Biology

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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genetic disease (Any condition caused by a malfunctioning gene or cytogenetic error and that affects an organism ...)
alkaptonuria (... Sir Archibald Garrod’s book Inborn Errors of Metabolism (1909).)
Garrod, Archibald Edward (... manner. Author of Inborn errors of metabolism (1902), in the Lancet.)
metabolic block (... a process or product. See inborn error of metabolism.)
error (... mistake. 3. bias. See Type 1 error, Type 2 error, and measurement error.)