01.17 - Wu - Metabolic Disorders

01.17 - Wu - Metabolic Disorders - Metabolic Disorders...

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Unformatted text preview: Metabolic Disorders Metabolomics, Metabonomics and link to genomics Dr. Joseph M. Wu January 17, 2008 1 Inborn errors of metabolism: Causes •Genetic diseases attributable to disorders of metabolism •Introduced by Archibald Garrod in 1908 •Majority due to single gene defects encoding enzymes; the net result of enzyme deficiency being (i) accumulation of toxic metabolites or substances which interfere with normal function, or (ii) alternatively, reduced ability to synthesize essential metabolites 2 Inborn errors of metabolism: Common clinical presentations •Growth failure, failure to thrive •Developmental delay, seizure, dementia, deafness, blindness •Immunodeficiency, anemia •spleenomegaly, enlarged lymph nodes •Cancer •Hepatomegaly •Muscle weakness 3 Cederbaum SD (2006) Mol Genet Metab 87, 184 Inborn errors of metabolism: Diagnosis and newborn screening 4 Cederbaum SD (2006) Mol Genet Metab 87, 184 Inborn errors of metabolism: Focus on the analyte (substrate) as the basis for diagnosis and newborn screening 5 Measurement of analytes •Paper and thin layer chromatography – targeting mostly the urine •Improvement in sensitivity and automation allow for more frequent, rapid, and more indiscriminate analysis •Today, in situ analysis readily available using PET (positron emission tomography) and MRS (magnetic resonance spectroscopy) 6 Cederbaum SD (2006) Mol Genet Metab 87, 184...
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This note was uploaded on 04/18/2008 for the course BIOC 1010 taught by Professor Zhang during the Fall '07 term at New York Medical College.

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01.17 - Wu - Metabolic Disorders - Metabolic Disorders...

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