BGEN 3020 Lecture Notes - Lecture 29: Tay–Sachs Disease, Newborn Screening, Infant
26 Oct 2018
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Timely diagnosis may prevent damage: often you can do something about these, diagnose and intervene in a timely manner = prevent severe consequences later one. Sam is a 3 day old boy who was brought in to the er because of: poor feeding, lethargy. Four month old lily, presents to er with: early morning seizure lasting 5 minutes. Five day olf neonate: unremarkable pregnancy, unremarkable l&d. The metabolic lab called to let you know that his pku test on newborn screen was positive. Understand that defects in basic biochemical processes may result in iem. Understand the multi-system nature and the diagnostic strategies for iem. Become familiar with newborn screening for iems (criteria, advantages, pitfalls) Inherited enzyme deficiencies: particularly the basic enzymes that do basic metabolic functions within the cells. Substrates and products have metabolites when broken down: take away the enzyme = substrate and metabolites accumulate = level of product and metabolite go down, broad effects.
