A member asked:

Can my baby's pku come out normal , and have down syndrome ?

2 doctors weighed in across 2 answers

Sure: The newborn blood screen tests for some rare disorders, some of which are due to a mutation (a change) at a single point on a gene on one of the baby's 46 chromosomes. Down syndrome is not that kind of mutation, but rather a major genetic defect in which the baby has one extra chromosome more than what normal humans are should have. A typical Down syndrome baby has 47 chromosomes instead of 46.

Answered 2/24/2018

395 views

Thank

Yes: They are separate issues. PKU is a metabolic disease. Down syndrome is caused by an extra 21 chromosome in each cell. Testing for each condition is separate. Many times a doctor can examine a baby & conclude that DS is likely. PKU cannot be determined or suspected by a newborn exam, it is found with tests.

Answered 2/24/2018

395 views

Thank

Related Questions

A member asked:

Im too small only 93 lbs will ensure pkus help?

A doctor has provided 1 answer

A member asked:

Can anyone tell me about phenylketonuria pku?

A doctor has provided 1 answer