Inborn errors of metabolism - Open Access .click

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, 1983
O’Brien has described the progress made in identifying lipid storage diseases as “enzymes to prevention.” (O’Brien, 1973). The lipid-storage diseases, called “lipidoses,” have been known since 1881 when Warren Tay, a British opthalmologist, together with Bernard Sachs, described a disease associated with the decline and finally arrest of cerebral ...
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Epilepsy in inborn errors of metabolism

2013
Epilepsies associated with inborn errors of metabolism (IEM) represent a major challenge. Seizures rarely dominate the clinical presentation, which is more frequently associated with other neurological symptoms, such as hypotonia and/or cognitive disturbances.
Nadia Bahi-Buisson, Olivier Dulac
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Inborn Errors of Biotin Metabolism

Archives of Dermatology, 1987
The important role of biotin in human physiology has been highlighted by the recognition of two newly discovered human inborn errors of the metabolism of biotin. The molecular defect in the neonatal-onset disease is in the enzyme holocarboxylase synthetase. The defect in the later infantile-onset disease is in the enzyme biotinidase.
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Inborn errors of metabolism