The following points highlight the five major metabolic disorders in urea cycle. The disorders are: 1. Hyperammonemia Type I 2. Hyperammonemia Type II 3. Citrullinemia 4. Arginosuccinic Aciduria 5. Hyperargininemia. Urea Cycle: Metabolic Disorder # 1. Hyperammonemia Type I: a. This is a familial disorder. b. This occurs due to the deficiency of the enzyme carbamoyl phosphate synthetase. c. It [...]
Amino acids forming pyruvate are convertible to acetyl-CoA. In addition to this, 5 amino acids form acetyl-CoA directly, without first forming pyruvate. Phenylalanine: Phenylalanine (an essential amino acid) is converted to tyrosine by phenylalanine hydroxylase; tetrahydropteridine, NADPH and O, are required. The reaction is not reversible. The catabolism of phenylalanine and tyrosine may be discussed under the following heads: 1. [...]
The following points highlight the fourteen major diseases caused due to errors in protein metabolism. The diseases are: 1. Albinism 2. Tyrosinosis 3. Tyrosinernia 4. Phenylketonuria 5. Alkaptonuria 6. Maple Syrup Urine Disease 7. Hartnup's Disease 8. Glycinuria 9. Primary Hyperoxaluria 10. Cystinuria 11. Cystinosis 12. Homocystinuria 13. Histidinemia 14. Hypervalinemia. Errors in Protein Metabolism: Disease # 1. Albinism: a. [...]