Pathology 3240A Lecture Notes - Lecture 6: Galactosemia, Polydipsia, Foam Cell
29 May 2016
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Genetic: inborn errors of metabolism (relatively rare) Related to dyslipidemia and other factors (atherosclerosis) o o. The range of biochemical processes that occur within us (or any living org) Metab consists of both anabolism and catabolism of substances. Metabolism is commonly used to refer to the breakdown of food (carbohydrates, prots, fat) and its transformation into energy. 1/12000 live births (more common in white people) Autosomal recessive (thus both parents have to be carriers) Commonest variant has severe low amt (or completely absent) in pah, so phenylalanine will not convert into tyrosine o o. Baby normal at birth, but accum of blood phenylalanine --> impaired brain dvlpmt. Screening test (first week of life, to try to pick up every abnormality): blood phenylalanine levels (heel prick: definitive genetic testing to determine specific mutation. Impaired brain dvlpmt: mental retardation, inability talk/walk, seizures, hyperactivity.
