BGEN 3020 Lecture Notes - Lecture 33: Biotinidase Deficiency, Newborn Screening, Prenatal Diagnosis

33 views3 pages

Document Summary

Population-based attempt to identify disorders in neonates that, if undetected, would lead to mental retardation or have life-threatening consequences and where treatment is available. Diseases are selected based on individual characteristics. The past individual test for each: pku, galactosemia, biotinidase deficiency, hypothyroidism, congentical adrenal hyperplasia, duchenne muscular dystrophy. Current and future: using mass spectrometry to screen for 40+ diseases all at one time, could screen for more, but only 40 are approved for screening. For specific populations with high frequencies of otherwise rare disease. In manitoba: dna based screening, targeted populations, disease has high frequency, founder mutation known, examples, glutaric academia type i, oi-cree population, glutaryl coa dehydrogenase, carrier: 1:10, neurologic disorder, hepatic cpti deficiency, hutterite population, ctpi, carrier: 1:16, hepatic disorder. Substrate restriction: pku limit phe in diet. Substrate synthesis reduction: gaucher disease block synthesis of sphingolipids. Removal of toxic products: urea cycle defects bind toxic metabolite. Enzyme replacement: fabry disease lysosomal storage, very expensive.

Get access

Grade+
$40 USD/m
Billed monthly
Grade+
Homework Help
Study Guides
Textbook Solutions
Class Notes
Textbook Notes
Booster Class
10 Verified Answers
Class+
$30 USD/m
Billed monthly
Class+
Homework Help
Study Guides
Textbook Solutions
Class Notes
Textbook Notes
Booster Class
7 Verified Answers

Related Documents

Related Questions