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51. Disturbances of amino acid metabolism: Difference between revisions
51. Disturbances of amino acid metabolism (view source)
Revision as of 13:19, 10 March 2023
, 10 March 2023→Homocystinuria
(Created page with "These disorders are mostly congenital disorders, meaning the symptoms occur already from birth. Amino acids are important for the brain, so most of these cause mental problems. The most important disorders of amino acid metabolism are: * Disorders of amino acid transport ** Hartnup disease ** Cystinuria ** Methionine malabsorption syndrome * Disorders of amino acid metabolism ** Phenylketonuria ** Tyrosinosis ** Alkaptonuria ** Albinism ** Oxalosis ** Maple syrup urine...") |
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A special type of phenylketonuria is ''malignant phenylketonuria'', where the defect is the deficiency of THB (tetrahydrobiopterin), a cofactor. This condition is more severe than classic PKU. | A special type of phenylketonuria is ''malignant phenylketonuria'', where the defect is the deficiency of THB (tetrahydrobiopterin), a cofactor. This condition is more severe than classic PKU. | ||
=== Homocystinuria === | |||
Homocystinuria is classically characterised by deficiency of cystathionine β-synthase, but deficiency of other enzymes may cause it as well. It causes elevated level of homocysteine in the blood (hyperhomocysteinaemia) and urine. | Homocystinuria is classically characterised by deficiency of cystathionine β-synthase, but deficiency of other enzymes may cause it as well. It causes elevated level of homocysteine in the blood (hyperhomocysteinaemia) and urine. | ||