The first inborn error in metabolism to be characterized in humans, this disease is diagnosed with the Guthrie test. Most people with it never learn to talk and do not progress beyond a mental age of two years, with 75% of th
The first inborn error in metabolism to be characterized in humans, this disease is diagnosed with the Guthrie test. Most people with it never learn to talk and do not progress beyond a mental age of two years, with 75% of them failing to reach the age of 30. The disease causes a defect in the PAH enzyme that causes accumulation of a toxic form of pyruvic acid that, in turn, causes deterioration of the central nervous system. FTP, what is this disease which inhibits the conversion of phenylalanine to tyrosine, abbreviated PKU?
The first inborn error in metabolism to be characterized in humans, this disease is diagnosed with the Guthrie test.
Phenylketonuria (accept PKU before it is read)