Garrod's information about the enzyme alteration resulting in alkaptonuria led to further elucidation of the same pathway in humans. Phenylketonuria (PKU) occurs when another enzyme in the pathway is altered or missing, resulting in a failure of phenylalanine (phe) to be metabolized to another amino acid: tyrosine. Tyrosine is an earlier substrate in the pathway altered in alkaptonuria. How might PKU affect the presence or absence of alkaptonuria?

Most genes contain the information needed to make functional molecules called proteins. (A few genes produce regulatory molecules that help the cell assemble proteins.) The journey from gene to protein is complex and tightly controlled within each cell. It consists of two major steps: transcription and translation.

Related Tests:

Basic Biology Practice Test: The Molecular Basis of Inheritance

Basic Biology Practice Test: The Chromosomal Basis of Inheritance