Journal ArticleDOI
Congenital Galactosemia, a Single Enzymatic Block in Galactose Metabolism
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This article is published in Science.The article was published on 1956-04-13. It has received 233 citations till now. The article focuses on the topics: Galactosemia & Galactose.read more
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Red cell metabolism
TL;DR: In this article, the authors define anomalie erythrocytaire, which is defined as an abnormality arising from a deficiency in the metabolism of an enzymatique.
Journal ArticleDOI
Metabolic abnormalities detected in a survey of mentally backward individuals in Northern Ireland.
Nina A. J. Carson,D. W. Neill +1 more
TL;DR: Glycinuria has recently been described by Childs, Nyhan, Borden, Bard and Cooke where mental retardation and microcephaly were accompanied by excess glycine in urine and blood, and cystathionuria in an elderly mentally-retarded patient was described.
Journal ArticleDOI
The Leloir pathway: a mechanistic imperative for three enzymes to change the stereochemical configuration of a single carbon in galactose
TL;DR: The structure of the enzyme reveals many details of the binding of NAD+ and inhibitors at the active site, and appears to have been guided by the principle of economy in the evolution of binding sites.
Book ChapterDOI
Disorders of Galactose Metabolism
TL;DR: Three inborn errors of Galactose metabolism are known, one for each step in the Leloir pathway of galactose conversion to glucose, and each occurs in both a benign mild form and a severe and crippling form.
References
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Journal ArticleDOI
Galactosemia, a congenital defect in a nucleotide transferase
TL;DR: Galactosemia seems to furnish an example of a congenital human metabolic disease in which a specific enzyme is missing and several of the metabolic manifestations of the disease might readily be explained on the basis of this enzymatic defect.
Journal ArticleDOI
Some disturbances of erythrocyte metabolism in galactosaemia
TL;DR: In an attempt to study the metabolism of galactosaemic red cells with that of normal cells under the same conditions, the erythrocytes are sought to use those cells of the patient which are most readily available, the£20,000 a year.
Journal ArticleDOI
Chronic galactemia: report of case with studies on carbohydrates
Howard H. Mason,Mary E. Turner +1 more
TL;DR: An instance of prolonged galactosuria associated with disturbance of nutrition and development in which studies on carbohydrates were carried out over a considerable period of time with findings that appear to throw light on the character of the disturbance is reported.
Journal ArticleDOI
A Study of the Genetics of Galactosaemia
A. Holzel,G. M. Komrower +1 more
TL;DR: The galactose tolerance test, although not specific, is regularly and persistently abnormal in cases of galactosaemia, even when the active phase of the disease has long since abated, either spontaneously in the milder forms or on miLk-free diets in the treated.