Galactokinase deficiency in a newborn infant.
نویسندگان
چکیده
منابع مشابه
Galactokinase deficiency in a patient with congenital hyperinsulinism.
BACKGROUND Galactokinase catalyses the first committed step in galactose metabolism, the conversion of galactose to galactose-1-phosphate. Galactokinase deficiency is an extremely rare form of galactosaemia, and the most frequent complication reported is cataracts. Congenital hyperinsulinism (CHI) is a cause of severe hypoglycaemia in the newborn period. Galactosaemia has not previously been re...
متن کاملIssues on universal screening for galactosemia.
Galactosemia is an inborn error of galactose metabolism, caused by an abnormality in the conversion of galactose and uridine diphosphoglucose to glucose-1-phosphate and uridine diphosphogalactose through the action of 3 sequential enzymes: galactokinase (GALK), galactose- 1-phosphate uridyltransferase (GALT), and uridine phosphogalactose 4-epimerase (GALE). The advent of newborn screening broug...
متن کاملNewborn screening for galactosemia: a 30-year single center experience.
BACKGROUND Galactosemia due to complete or near-complete galactose-1-phosphate uridyltransferase (GALT) deficiency was the first disorder added to the pioneering newborn screening panel besides phenylketonuria. In the last 50 years, many criticisms have been focused on the opportunity of its inclusion. Consequently, long-term single center experiences with this issue are generally lacking. ME...
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Resistance to thyroid hormone is an uncommon condition. We report the clinical and laboratory findings of a case with both resistance to thyroid hormone and, a reduced capacity to produce and respond to thyroid hormone. RTH is a disorder characterized by elevated circulating thyroid hormones, state of non-suppressed pituitary TSH secretion and refractoriness to hormone action in peripheral tiss...
متن کاملRapid method for screening for galactosemia and galactokinase deficiency by measuring galactose in whole blood spotted on paper.
Two major metabolic disorders are associated with galactose metabolism: galactokinase (ATP : D-galactose1-phosphotransferase, EC 2.7.1.6) deficiency and galactosemia (1) secondary to a deficiency in galactose-i-phosphate uridyl transferase (UTP: a-D-galactose-i-phosphate uridyltransferase, EC 2.7.7.10) activity. One case reported in 1972 (2) described a third enzymatic (UDPglucose 4-epimerase, ...
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عنوان ژورنال:
- Archives of disease in childhood
دوره 46 250 شماره
صفحات -
تاریخ انتشار 1971