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Disorders of Amino Acid Metabolism by Nikitha Rafeek is a document available to read on EtoBox.
1. Phenylketonuria is caused by a deficiency of the enzyme phenylalanine hydroxylase, leading to a buildup of phenylalanine. Untreated patients can experience intellectual disability, seizures, behavioral issues, and other neurological problems. Treatment involves a lifelong phenylalanine-restricted diet. 2. Tyrosinemia type 1 is caused by a fumarylacetoacetate hydrolase deficiency, resulting in toxic metabolites and risk of liver and neurological complications. Treatment includes nitisinone and dietary r
- Author
- Nikitha Rafeek
- Language
- EN