Question: Why Does Phenylketonuria Cause Mental Retardation?

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..

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.

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.

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).

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].

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 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 you outgrow PKU?

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

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.

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.)

What causes neuronal damage in patients with PKU?

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.

What are the benefits of phenylalanine?

Phenylalanine is used for a skin disease called vitiligo, depression, attention deficit-hyperactivity disorder (ADHD), Parkinson’s disease, multiple sclerosis, pain, acupuncture anesthesia, osteoarthritis, rheumatoid arthritis, weight loss, and alcohol withdrawal symptoms.

What is the life expectancy of a person with phenylketonuria?

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

What can someone with PKU eat?

PKU DietMeat, eggs, and fish.Bread, noodles, and wheat products.Nuts, peas, and beans (and products made from these foods).Milk and cheese.Chocolate.

How much phenylalanine is in an egg?

Munks et al. (4) found 5.8 per cent phenylalanine and 4.8 per cent tyrosine in the protein of whole eggs.