Quick Answer: How Does PKU Cause Mental Retardation?

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 someone with PKU?

PKU does not shorten life expectancy, with or without treatment. Newborn screening for PKU is required in all 50 states.

What happens when phenylalanine accumulates in the body?

Phenylalanine is an essential nutrient, but some individuals are born with a genetic disorder, phenylketonuria (PKU), that prevents them from metabolizing phenylalanine, and, if untreated, phenylalanine accumulates in the body, becomes converted into phenylpyruvate, and the individual usually develops seizures, brain …

Can PKU be reversed?

There is no cure for PKU, but treatment can prevent intellectual disabilities and other health problems. A person with PKU should receive treatment at a medical center that specializes in the disorder.

How much protein can a person with PKU have?

The United Kingdom Medical Research Council Working Party on PKU recommend a total protein intake of at least 3 g/kg body weight per day for children under 2 years of age and 2 g/kg body weight per day for children over 2 years of age [5].

Why does PKU cause mental retardation?

Accumulation of phenylalanine generates a brain damage and consequently irreversible mental retardation. If PKU were diagnosed early at birth and the patients maintained on a strict and controlled low-phenylalanine diet, the symptoms of this disease could be prevented [1], [2].

Can PKU cause autism?

The risk of autistic features or ASD increases in children with inborn errors of metabolism, particularly in the presence of cognitive and behavioral deficits. The presence of ASD or autistic characteristics has been reported in various metabolic disorders such as phenylketonuria (PKU) (2).

How serious is 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.

How is the family of a person with PKU affected?

As PKU is inherited in an autosomal recessive fashion, all children of a mother with PKU will inherit 1 affected gene.

What can Babies with PKU eat?

When your baby is ready to eat solid foods, she can eat vegetables, fruits, some grains (like low-protein cereals, breads and pasta) and other low-phenylalanine foods. If your baby has PKU, she should not eat: Milk, cheese, ice cream and other dairy products.

How does PKU affect the brain?

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.

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.

Can PKU be inherited?

PKU is inherited in families in an autosomal recessive pattern. Autosomal recessive inheritance means that a person has two copies of the gene that is altered. Usually, each parent of an individual who has PKU carries one copy of the altered gene.

How does phenylalanine affect the brain?

The high plasma phenylalanine concentrations increase phenylalanine entry into brain and restrict the entry of other large neutral amino acids. In the literature, emphasis has been on high brain phenylalanine as the pathological substrate that causes mental retardation.

Can PKU cause severe mental retardation?

After all, PKU is a rare, genetic disorder of amino acid metabolism identified at birth by pediatricians and treated by geneticists. But, PKU is also a disorder that, if left untreated, leads to severe behavioral difficulties and ultimately mental retardation.

How does PKU affect development?

If PKU in a child is not diagnosed and treated, phenylalanine will build up in the bloodstream until it reaches levels that can cause brain damage. It can also cause permanent damage to organs and tissues around the body. PKU can lead to: Developmental delays.

Can you outgrow PKU?

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