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About Lecture 1 Introduction To Genetic Metabolic Disorders
This lecture discusses genetic metabolic disorders, with a focus on phenylketonuria (PKU). PKU results from a deficiency of the enzyme phenylalanine hydroxylase, causing phenylalanine to accumulate in the blood. Untreated PKU can cause intellectual disability, developmental delays, neurological problems, and behavioral issues. Treatment involves restricting phenylalanine intake through diet. Newborn screening allows for early diagnosis and treatment before symptoms appear. The lecture defines genetic metabolic disorders and medical nutrition therapy, and outlines objectives, causes, manifestations, diagnosis, and treatment of PKU as the most common example of an amino acid metabolism disorder.
Detailed Information
| Author: | ['amjadm2002'] |
|---|---|
| Publication Year: | 2024 |
| Pages: | 21 |
| Language: | English |
| Format: | |
| Price: | FREE |
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