Treatment of homocystinuria.

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Dietary treatment of homocystinuria.

Homocystinuria was described in 1962 by Field, Carson, Cusworth, Dent, and Neil and later in the same year by Gerritsen, Vaughn, and Waisman. A further case was reported by Komrower and Wilson (1963); in this case and the ones described by Field et al., the patients presented a characteristic picture of congenital bilateral dislocation of the eye lens, iridodenesis, genu valgum, pes planum, and...

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Treatment of homocystinuria.

Homocystinuria, a condition associated with decreased hepatic cystathionine synthetase activity (Mudd, Finkelstein, Irreverre, and Laster, 1964), is characterized by increased urinary homocystine and methionine, by increased serum methionine levels, and by low cystathionine levels in brain (Gerritsen and Waisman, 1964b). It is not known how these biochemical findings are related to the multiple...

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Treatment of Homocystinuria with Pyridoxine

Homocystinuria is the result of an inborn error in the metabolism of the essential sulphur-containing amino acid, methionine (Carson and Neill, 1962; Gerritsen, Vaughn, and Waisman, 1962). There is now good evidence (Mudd et al., 1964) to show that the basic defect in this disorder is an inactivity of hepatic cystathionine synthetase, which prevents the formation of cystathionine from homocyste...

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Homocystinuria. Reduced folate levels during pyridoxine treatment.

Wilcken, B., and Turner, B. (1973). Archives of Disease in Childhood, 48, 58. Homocystinuria: reduced folate levels during pyridoxine treatment. Nine patients with homocystinuria due to cystathionine synthase deficiency were treated with pyridoxine: 6 responded biochemically and 5 of these showed marked clinical improvement. Full biochemical response was only obtained slowly in some patients. R...

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ژورنال

عنوان ژورنال: Archives of Disease in Childhood

سال: 1967

ISSN: 0003-9888,1468-2044

DOI: 10.1136/adc.42.225.514