Cataracts in galactosemia
نویسندگان
چکیده
0,"ne purpose of this award to to preserve the name of a great scientist who has contributed so much to the field of ophthalmology. If this were the only purpose, this award would not be necessary, for Dr. Friedenwald is immortalized by his many publications which serve as catalysts for a great number of other investigations. This presentation on the cataracts in galactosemia is an illustration.
منابع مشابه
Association of Escherichia coli sepsis and galactosemia in neonates.
Galactosemia in newborns and infants is associated with the following symptoms: jaundice, hepatomegaly, failure to thrive, feeding difficulties, hypoglycemia, convulsions, lethargy, amino-aciduria, cataracts, hepatic cirrhosis, ascites, and mental retardation. If the preliminary evaluation indicates galactosemia, there is high risk for E. coli sepsis and death. Strong consideration should there...
متن کاملGalactosemia : A Genetic Disease of Leloir Pathway
Galactosemia is a genetic disorder which causes inability to metabolize galactose in the body. Our body converts galactose into glycolytic intermediate by Leloir pathway. Galactosemia is caused by the mutation in the gene encoding enzymes of Leloir pathway or non-functioning of these enzymes. Types of galactosemia are due to different enzyme deficiencies. Type I is for GALT (galactose-1-phospha...
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BACKGROUND The objective of this study was to document the clinical, laboratory and genetic features of galactosemia in patients from the Cape Town metropolitan region. METHODS Diagnoses were based on thin layer chromatography for galactosuria/galactosemia and assays of erythrocyte galactose-1-phosphate uridyltransferase (GALT) and galactokinase activities. Patients were screened for the comm...
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, ...
متن کامل1. Biochemistry, molecular biology and molecular genetics of galactosemia
Galactosemia is an autosomal recessive disorder of Galactose metabolism, characterized by inability to metabolize galactose. Three enzymes are principally involved in the metabolic conversion of galactose to glucose: a galactose specific kinase (GALK), galactose-1-phosphate uridyl transferase (GALT) and uridine diphosphate galactose-4-epimerase (GALE). On the basis of defective enzyme the disea...
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تاریخ انتشار 2005