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Current Treatment Options in Neurology, 2003
Despite the dramatic response of sick neonates with galactosemia to the withdrawal of galactose from the diet, over the long-term, complications, including learning disorders, verbal apraxia, and ataxia, often develop. It is clear that, although lifelong galactose restriction remains the basis of treatment for this disease, additional treatment methods
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Despite the dramatic response of sick neonates with galactosemia to the withdrawal of galactose from the diet, over the long-term, complications, including learning disorders, verbal apraxia, and ataxia, often develop. It is clear that, although lifelong galactose restriction remains the basis of treatment for this disease, additional treatment methods
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Archives of Ophthalmology, 1958
Galactosemia is an inborn error of carbohydrate metabolism first described by von Reuss1a half a century ago. Sporadic reports of the disorder are found in the literature since that time, and during the past decade, probably because of earlier recognition and diagnosis, such reports have appeared with increasing frequency.
W A, WILSON, G N, DONNELL
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Galactosemia is an inborn error of carbohydrate metabolism first described by von Reuss1a half a century ago. Sporadic reports of the disorder are found in the literature since that time, and during the past decade, probably because of earlier recognition and diagnosis, such reports have appeared with increasing frequency.
W A, WILSON, G N, DONNELL
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Acta Paediatrica, 1980
Abstract. Pettersson, R., Dahlqvist, A., Hattevig, G. and Kjellman, B. (Department of Paediatrics Central Hospital, Skövde and Department of Nutrition, University of Lund, Sweden). Borderline galactosemia. Acta Paediatr Scand, 69:735, 1980.—A family with combined heterozygosity for “classical” galactosemia (deficiency of uridyl‐transferase) and for ...
R, Pettersson +3 more
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Abstract. Pettersson, R., Dahlqvist, A., Hattevig, G. and Kjellman, B. (Department of Paediatrics Central Hospital, Skövde and Department of Nutrition, University of Lund, Sweden). Borderline galactosemia. Acta Paediatr Scand, 69:735, 1980.—A family with combined heterozygosity for “classical” galactosemia (deficiency of uridyl‐transferase) and for ...
R, Pettersson +3 more
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JAMA: The Journal of the American Medical Association, 1971
To the Editor.— Two newborns with clinical signs of galactosemia and deficiencies of galactose 1-phosphate uridyl transferase, patients of Drs. David Tuman and Melvin Rosh, respectively, had concomitant septicemias from Escherichia coli (C. A. McNicol, MD, and M. Rosh, MD, personal communications).
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To the Editor.— Two newborns with clinical signs of galactosemia and deficiencies of galactose 1-phosphate uridyl transferase, patients of Drs. David Tuman and Melvin Rosh, respectively, had concomitant septicemias from Escherichia coli (C. A. McNicol, MD, and M. Rosh, MD, personal communications).
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2016
There are three known inherited disorders of galactose metabolism: classic galactosemia (galactose-1-phosphate uridyltransferase deficiency), galactokinase deficiency, and uridine diphosphate galactose 4-epimerase deficiency. Classic galactosemia presents in the newborn period with liver and renal impairment and failure to thrive.
Annet M. Bosch, Elaine Murphy
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There are three known inherited disorders of galactose metabolism: classic galactosemia (galactose-1-phosphate uridyltransferase deficiency), galactokinase deficiency, and uridine diphosphate galactose 4-epimerase deficiency. Classic galactosemia presents in the newborn period with liver and renal impairment and failure to thrive.
Annet M. Bosch, Elaine Murphy
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Postgraduate Medicine, 1964
Since 1945, galactosemia has attracted considerable interest, especially when it was recognized that it led rapidly to irreversible mental disease, the development of which can be prevented by nutritional technics. The disease is inherited, but the precise mode of transmission is not known.
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Since 1945, galactosemia has attracted considerable interest, especially when it was recognized that it led rapidly to irreversible mental disease, the development of which can be prevented by nutritional technics. The disease is inherited, but the precise mode of transmission is not known.
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European Journal of Pediatrics, 1995
Classic galactosemia is an enigmatic disorder that presents the challenge of unraveling the basis of the long-term complications of mental disability, speech defects, ovarian failure and neurologic syndromes which occur despite a galactose-restricted diet.
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Classic galactosemia is an enigmatic disorder that presents the challenge of unraveling the basis of the long-term complications of mental disability, speech defects, ovarian failure and neurologic syndromes which occur despite a galactose-restricted diet.
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2017
Abstract This chapter discusses galactosemia, including clinical and biochemical abnormalities, genetic background, factors to consider in nutritional evaluation, dietary management, monitoring, and follow-up care. Dietary management during and after infancy, nutritional supplement needs, and lactose in medications are specifically ...
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Abstract This chapter discusses galactosemia, including clinical and biochemical abnormalities, genetic background, factors to consider in nutritional evaluation, dietary management, monitoring, and follow-up care. Dietary management during and after infancy, nutritional supplement needs, and lactose in medications are specifically ...
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