Do PKU carriers have symptoms?

A person with one genetic defect for the disorder, is called a ‘carrier’ for PKU. Carriers do not have symptoms of the disorder. When two carriers conceive a child, there is a one in four (or 25\%) chance for each pregnancy that the baby will have PKU.

What body systems does PKU affect?

In a child with PKU, phenylalanine cannot be converted to tyrosine because the phenylalanine hydroxylase enzyme does not work properly. This results in dangerously high levels of phenylalanine that build up in the blood and become toxic to the brain and nervous system.

What happens if you can’t process protein?

If you have it, your body can’t process phenylalanine (Phe). Phe is an amino acid, a building block of proteins. It is in almost all foods. If your Phe level gets too high, it can damage your brain and cause severe intellectual disability.

Can PKU be missed?

A phenylalanine-restricted diet should be started as soon as possible. Occasionally, cases of PKU are missed by newborn screening. Thus, a repeat PKU test should be performed in an infant who exhibits slow development.

What happens if someone with PKU eat protein?

A dangerous buildup of phenylalanine can develop when a person with PKU eats protein-rich foods, such as milk, cheese, nuts or meat, and even grains such as bread and pasta, or eats aspartame, an artificial sweetener. This buildup of phenylalanine results in damage to nerve cells in the brain.

Why does PKU cause neurological symptoms?

PKU affects the brain. When neurotransmitters are not made in the right amounts, the brain cannot function properly. High blood Phe levels can cause disruptions in neurotransmitters like serotonin and dopamine, which are important for mood, learning, memory, and motivation.

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.

What is the life expectancy of PKU?

PKU does not shorten life expectancy, with or without treatment. Newborn screening for PKU is required in all 50 states. PKU is usually identified by newborn screening. A child’s outlook is very good if she strictly follows the diet.

Can you have a mild case of 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.

What are the long term effects of PKU?

Untreated PKU can lead to: Irreversible brain damage and marked intellectual disability beginning within the first few months of life. Neurological problems such as seizures and tremors. Behavioral, emotional and social problems in older children and adults.

What is the average lifespan of someone with PKU?

The average age at death was 55.8 years. Eleven subjects were still alive (seven females and four males). The oldest living male was 79 years of age. The average age of the survivors was 55.7 years.

What alcohol can someone with PKU drink?

Drinks containing negligible or only a trace amount of protein:

• Cider (dry, sweet and vintage cider)
• Bottled shandy (Pub Shandy is stronger, contains significant amounts of phenylalanine and should be counted as an exchange – see below)
• Martini (dry and sweet)
• Spirits (whiskey, gin, rum, brandy, vodka, Pimm’s)