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- W2082094745 abstract "Hyperglycinaemia and hyperglycinuria is a relatively new disorder of amino acid metabolism. The first patient with this disease was described by Childs, Nyhan, Borden, Bard, and Cooke in 1961; since then two other cases have been reported (Nyhan, Chisolm, and Edwards, 1963; Cochrane, Scriver, and Krause, 1963). The histories of these cases demonstrate that severe manifestations of the disorder may develop in the immediate neonatal period, the most striking features being vomiting, irregular breathing, weak reflexes, and flaccidity, together with metabolic acidosis and ketonuria. The precise underlying defect, probably in the metabolism of glycine, has not so far been elucidated. Family histories give some evidence that this disease is a genetic disorder. In two of the three families reported, other sibs died, probably with the same disease, in early infancy. In the third family two earlier pregnancies ended in miscarriages. We report here another infant with hyperglycinaemia and hyperglycinuria, a boy, who died at 4 days with flaccidity and irreversible respiratory acidosis. The family history of this patient is remarkable: three earlier pregnancies ended in miscarriages; two sibs (both boys) died in the first days of life with the same clinical syndrome. One normal girl is alive. This familial incidence gives strong support for the hereditary character of this disorder." @default.
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- W2082094745 date "1964-08-01" @default.
- W2082094745 modified "2023-09-26" @default.
- W2082094745 title "Hyperglycinaemia and Hyperglycinuria in a Newborn Infant" @default.
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- W2082094745 doi "https://doi.org/10.1136/adc.39.206.397" @default.
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