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A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up. [PDF]
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The Indian Journal of Pediatrics, 1963
A case of galactosemia is reported with a follow-up of 21 months. On a galactose free diet, a normal physical and mental development, and reversal of cataracts and hepatic cirrhosis were demonstrated.
O N, BHAKOO, B N, WALIA, P I, PAULOSE
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A case of galactosemia is reported with a follow-up of 21 months. On a galactose free diet, a normal physical and mental development, and reversal of cataracts and hepatic cirrhosis were demonstrated.
O N, BHAKOO, B N, WALIA, P I, PAULOSE
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Metabolism, 2018
Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate uridylyltransferase (GALT) and UDP-galactose 4-epimerase (GALE). The defects in these enzymes cause galactosemia in an autosomal recessive manner.
Demirbas, Didem +3 more
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Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate uridylyltransferase (GALT) and UDP-galactose 4-epimerase (GALE). The defects in these enzymes cause galactosemia in an autosomal recessive manner.
Demirbas, Didem +3 more
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European Journal of Pediatrics, 1995
Urinary galactose and galactitol excretion in controls is age-dependent with the highest concentrations at a younger age. Untreated patients with classical galactosemia excreted highly elevated amounts of galactitol (8000-69,000 mmol/mol creatinine; controls 3-81) which did not correlate with galactose excretion.
C, Jakobs, S, Schweitzer, B, Dorland
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Urinary galactose and galactitol excretion in controls is age-dependent with the highest concentrations at a younger age. Untreated patients with classical galactosemia excreted highly elevated amounts of galactitol (8000-69,000 mmol/mol creatinine; controls 3-81) which did not correlate with galactose excretion.
C, Jakobs, S, Schweitzer, B, Dorland
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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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