Navigation
[TITLE]

[MESSAGE]

[BUTTONS]

Popular questions...

Content

How common is phenylketonuria?

Phenylketonuria is a rare condition. It appears in about one in every 15,000 newborn babies and there are about 50,000 people worldwide living with the condition.

FAQ Frequently asked questions

What is phenylketonuria?

Phenylketonuria, or PKU, is a rare inherited disorder. The body of a person born with PKU is unable to break down phenylalanine, an important substance in human metabolism. As a result, phenylalanine accumulates in the body and can lead to the person developing an …

What causes phenylketonuria?

Phenylketonuria is caused by a gene mutation. The body of a person born with PKU is unable to break down phenylalanine, an important substance in human metabolism. As a result, phenylalanine accumulates in the body and can lead to the person developing an …

Who gets phenylketonuria?

Phenylketonuria is an inherited condition. A person with phenylketonuria gets the mutated gene copies from their parents.

How is phenylketonuria diagnosed?

Phenylketonuria is normally diagnosed in the days after birth with a newborn screening blood test (heel prick test).

How is phenylketonuria treated?

Phenylketonuria is treated with a special diet very low in phenylalanine.

Can phenylketonuria be cured?

Phenylketonuria cannot be cured at present; the condition is permanent and requires lifelong management.

Is phenylketonuria contagious?

Phenylketonuria is not contagious.

Can phenylketonuria be prevented?

Phenylketonuria is genetic and manifests at birth. The symptoms of phenylketonuria can be prevented by following a special phenylalanine-restricted diet.

Are there different types of phenylketonuria?

Phenylketonuria can show up as mild, moderate or severe, depending on the specific mutation of the PAH gene.

Related topics

Diseases & conditions

Fetal alcohol syndrome

Fetal alcohol syndrome may occur when an unborn child is exposed to alcohol consumed by its mother during pregnancy. The condition may have devastating effects on the development of the fetal brain and the child’s subsequent intellectual, physical and behavioural development.…
Diseases & conditions

Cerebral palsy

Cerebral palsy (CP) is a group of conditions that affect how a person moves and controls their muscles. It is a result of damage that occurs to the brain before birth, or in the first few months after.…
Diseases & conditions

Cleft lip and palate

Cleft lip and palate are congenital conditions in which the two sides of a baby’s top lip or roof of the mouth do not join up during foetal development. Surgery is normally performed to correct the condition, usually between the ages of six months and two years.…
Diseases & conditions

Spina bifida

Spina bifida is a birth defect involving the spine, spinal cord and the protective covering of the spinal cord, called the meninges. It is part of a group of disorders called neural tube defects that can occur to a foetus during pregnancy.…
Diseases & conditions

Pectus excavatum

Pectus excavatum, also known as ‘funnel chest’ or ‘sunken chest’, is a deformity of the chest wall present from birth. The connective tissue that connects the breastbone to the ribs grows too much, so the middle of the chest appears sunken.…
Diseases & conditions

Progeria

Progeria is a rare genetic disorder that causes a child to age rapidly, giving them an average life expectancy of 13 years. Symptoms begin to appear in the first two years of life. It’s also known as Hutchinson-Gilford progeria syndrome, or HGPS.…

About this article

Author: Dr Idan Ben-Barak PhD, MSc, BSc (Med)
First answered: 07 Oct 2014
Last reviewed: 14 May 2019
Rating: 4.0 out of 5
Votes: 789 (Click smiley face below to rate)
Category: Fetal alcohol syndrome

×

Content goes in here.