nutrition - Click to edit Master subtitle style 2/23/11...

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Unformatted text preview: Click to edit Master subtitle style 2/23/11 Nitya Reddy Jakka GENETIC DISORDERS OF CARBOHYDRATE METABOLISM 2/23/11 Carbohydrates- major portion of human diet Three principle monosaccharides Galactose Fructose Glucose Failure to effectively use these sugars results in inborn errors of metabolism Background 2/23/11 Galactosemia Inability to metabolize galactose Mutations in gene that makes GALT enzyme Fructosuria Inability to metabolize fructose Mutations in gene encoding hepatic fructokinase Diabetes mellitus type 1 Inability to metabolize glucose Contd. 2/23/11 Autosomal recessive disorder Normal galactose metabolism of GALT is blocked Results in accumulation of galactose, galactose-1-phosphate, galactitol Symptoms of toxicity include liver dysfunction, hypotonia and cataracts Long-term complications of a galactose- restricted diet: cognitive dysfunction, neurologic impairment, tremor, verbal Galactosemia Click to edit Master subtitle style...
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This note was uploaded on 02/21/2011 for the course NTR 503 taught by Professor Dr.lisa during the Spring '10 term at SUNY Buffalo.

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nutrition - Click to edit Master subtitle style 2/23/11...

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