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December 1961

Inborn Errors

Arch Ophthalmol. 1961;66(6):771-772. doi:10.1001/archopht.1961.00960010773001

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In 1908 a physician-biochemist, Sir Archibald Garrod, coined an expression "inborn errors of metabolism" which was to find little use for 50 years, but then spring into common parlance with such exuberance that whole chapters, books, and curricular courses were to be composed about it. Many of the errors referred to are genetic faults in which one or more enzymes are effectively lacking. The specific enzyme which is deficient has been identified in only a few cases but the clinical syndromes are well documented. The recognized syndromes have multiplied from Garrod's original four (alcaptonuria, albinism, cystinuria, and pentosuria) to nearly a hundred at present, and many more will presumably be described in the next few years.

Some of the inborn errors of metabolism having conspicuous ophthalmologic manifestations are galactosemia (cataracts), gargoylism (corneal opacification), several forms of amaurotic family idiocy (blindness), alcaptonuria and ochronosis (pigmentation of sclera and cornea), myotonia atrophica

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