The first article deals with the problem of using the response to injected phenylalanine to determine whether or not the subject is heterozygous for phenylketonuria. The second article suggests a ...

Single gene disorders, like Huntington’s disease and cystic fibrosis, actually follow Mendelian inheritance patterns. The PKU-associated enzyme deficiency was determined biochemically in the ...

Local perspective "Gideon was diagnosed with phenylketonuria or PKU. PKU is an inherited genetic disorder where the body can't break down an amino acid called phentolamine," said Gideon's mom ...

Phenylketonuria is an inherited disorder in which the person cannot process phenylalanine appropriately. Since phenylalanine converts to L-tyrosine, this could lead to low levels. People with PKU ...

A rare disease in the US is one in 1,500, or fewer than 200,000 people, and an ultra-rare disease is one in 50,000 or fewer than than 6,000 people.

search for genes linked to different types of disease understand inherited disorders and their ... One example is a disease called phenylketonuria (PKU). It is caused by a change in the PAH ...