Can You Have Mild PKU?

Can phenylketonuria be detected before birth?

Newborn blood testing identifies almost all cases of phenylketonuria.

All 50 states in the United States require newborns to be screened for PKU.

Many other countries also routinely screen infants for PKU.

If you have PKU or a family history of it, your doctor may recommend screening tests before pregnancy or birth..

Does PKU run in families?

PKU is passed down through families. For a baby to have the disease, he or she must get (inherit) the PKU gene from both parents. The father and mother may not have PKU or even know that PKU runs in their families.

Are there different levels of PKU?

There are four types of PKU: Hyperphenylalaninemia: the lowest level above normal. Mild PKU: blood levels are mildly elevated. Moderate or variant: levels are not low but not high.

Can a woman with PKU have a normal child?

The good news is that most pregnant women who have PKU can have healthy babies if they follow their PKU meal plan. This is a special meal plan that is low in phenylalanine. PKU meal plans are different for each person and depend on how much phenylalanine your body can take.

Can PKU develop in adults?

Although it is principally a childhood disorder, in rare cases, the first signs of PKU may develop in late adulthood resembling common neurological diseases.

Is PKU a disability?

In order to qualify for Social Security Disability benefits due to a diagnosis of phenylketonuria, you must be able to prove that your condition prevents you from performing any type of substantial gainful work activity.

Is PKU more common in males or females?

Each year 10,000 to 15,000 babies are born with the disease in the United States and Phenylketonuria occurs in both males and females of all ethnic backgrounds (although it is more common in individuals of Northern European and Native American heritage.)

Can you have PKU and not know it?

Newborns with PKU initially don’t have any symptoms. However, without treatment, babies usually develop signs of PKU within a few months. PKU signs and symptoms can be mild or severe and may include: A musty odor in the breath, skin or urine, caused by too much phenylalanine in the body.

Who is most likely to get PKU?

In the United States, PKU is most common in people of European or Native American ancestry. It is much less common among people of African, Hispanic, or Asian ancestry.

Can you outgrow PKU?

A person with PKU does not outgrow it and must stay on the diet for life.

At what age does PKU become evident?

Classic phenylketonuria (PKU) is the most severe form. Babies with PKU usually seem healthy at birth. Signs of PKU begin to appear around six months of age.

What is mild PKU?

Mild phenylketonuria is a rare form of phenylketouria (PKU variant), an inborn error of amino acid metabolism, characterized by symptoms of PKU of mild to moderate severity. Patients with blood phenylalanine concentrations of 600-1,200 micromol/L are considered to have mild PKU.

How long is the average lifespan of a person with PKU?

One had poor control, with levels above 20 mg/dl. Those in this group had frequent levels of 10-18 mg/dl (600-1080 mol/l) during their adult years, but all continued to consume the medical product. The average age was 22 years (range 18-27 years).

How do they test for PKU in adults?

If a child or adult shows symptoms of PKU, such as developmental delays, the doctor will order a blood test to confirm the diagnosis. This test involves taking a sample of blood and analyzing it for the presence of the enzyme needed to break down phenylalanine.

Can a mother with PKU breastfeed?

Yes you can breastfeed! Breastfeeding is possible for women who have normal babies and who have phe levels in the safe range. The mother should keep her phe levels in the safe range (2-6mg%) while waiting for the baby to be tested for PKU, and hopefully for life after having the baby!