Question 1

is phenylketonuria (pku) is an inherited disease caused by a recessive gene? parents would be carriers?

Accepted Answer

Correct: For a person to inherit pku they must receive a defective pah gene from each parent. Both parents are carriers. The chance of further children having pku is 1 in 4, and 2 out of 3 children who do not have pku will be carriers of the gene.

Question 2

what happens if the mother carries the recessive pku gene, and the father does not, then.?

Accepted Answer

No problem: The potential offspring of this pairing would all have equal chance to be a PKU carrier or normal. There is no chance of having a PKU offspring from this couple.

Question 3

what is phenylketonuria (pku)?

Accepted Answer

Gene mutation: When someone inherits a defective gene  from two unaffected parents they can have pku. They can't make the enzyme phenyalanine (phe) hydroxylase.The dietary protein phe cannot be broken down &amp; the phe level raises in the blood &amp; urine. Untreated it will cause brain damage, short stature &amp; seizures. Treatment includes avoiding phe containing foods, meds &amp; regular followup.

Question 4

how serious is phenylketonuria?

Accepted Answer

Very: Untreated traditional PKU will eventually lead to brain damage, seizures and profound limitations in a persons life. Recognition and early treatment during the rapid development of infancy and childhood can help most lead a relatively normal life. Some variant forms are quite mild and require no treatment and others are so bad little will help.Offspring of affected females are at risk.

Question 5

what exactly is phenylketonuria?

Accepted Answer

Genetic disease: Inability to metabolize phenylalanine properly results in build up of toxic by-products. Patients need perfect compliance with a carefully-planned diet to avoid extremely severe brain damage. Outcome is good nowadays. Good luck.

Question 6

can a person inherit phenylketonuria?

Accepted Answer

Yes: Both parents must be carriers.

Question 7

what is the cause of phenylketonuria?

Accepted Answer

Gene mutation: When someone inherits a defective gene from two unaffected parents they can have pku. They can't make the enzyme phenyalanine (phe) hydroxylase. The dietary protein phe cannot be broken down &amp; the phe level raises in the blood &amp; urine. Untreated it will cause brain damage, short stature &amp; seizures. Treatment includes avoiding phe containing foods, meds &amp; regular followup.

Question 8

can anyone tell me about phenylketonuria pku?

Accepted Answer

Phenylalanine (Phe): Your genes pass the code to your cells for making  enzymes it needs to utilize dietary substances. Food must be broken down to usable parts & recycled in each cell to become the building blocks of cell walls, muscle, etc.In pku a kid inherits a bad code from both asymptomatic parents &  doesn't make the phe enzyme. A buildup of phe becomes toxic.Removing phe from the diet allows normal growth.

Question 9

how many different people in the u.s. suffer from phenylketonuria (pku)?

Accepted Answer

About 15,000: It is estimated that there are about 14, 000 - 15, 000 people in the usa living with pku. Pku alliance (a patient organization) has excellent information on how common pku is and how it is screened. Here link for your convenience: http://www.Npkua.Org/education/aboutpku.Aspx.

Question 10

does anyone know the percent of the u.s. population affected with phenylketonuria (pku)?

Accepted Answer

1 in 15000: Pku is found at a rate of 1 in 15000 in us. It is less common in asian-americans and african-americans. There are milder forms of pku with less severe symptoms.

What We Treat

Telehealth

About Us

HealthTap Online Primary Care Doctors Accepting New Patients

Doctor answers about:

Is phenylketonuria dominant or recessive

A member asked:

Is phenylketonuria (pku) is an inherited disease caused by a recessive gene? parents would be carriers?

A member asked:

What happens if the mother carries the recessive pku gene, and the father does not, then.?

A member asked:

What is phenylketonuria (pku)?

A member asked:

How serious is phenylketonuria?

A member asked:

What exactly is phenylketonuria?

A member asked:

Can a person inherit phenylketonuria?

A member asked:

What is the cause of phenylketonuria?

A member asked:

Can anyone tell me about phenylketonuria pku?

A member asked:

How many different people in the u.s. suffer from phenylketonuria (pku)?

A member asked:

Does anyone know the percent of the u.s. population affected with phenylketonuria (pku)?

HealthTap Online Primary Care Doctors Accepting New Patients

Telemedicine

Primary Care

Manage Your Conditions

Women's Health

Children's Health

Men's Health

Senior Health

Wellness, Prevention & Lifestyle

Sexual Health

Mental & Behavioral Health

Travel Medicine

Urgent Care

Didn't find what you're looking for?

More of what we treat

Allergies

Antibiotics

Asthma

High Blood Pressure

Prescriptions

Type 2 Diabetes

Patient Care

Partner With Us

HealthTap

Join Us

Get the HealthTap app

Questions?