Phenylketonuria
Symptoms of PKU
PKU doesn't usually cause any symptoms if treatment is started early. Without treatment, PKU can damage the brain and nervous system, whichcanlead to learning disabilities. Other symptoms of untreated PKU include: behavioural difficulties such as frequent temper tantrums and episodes of self-harm fairer skin, hair and eyes than siblings without the condition (phenylalanine is involved in the body's production of melanin, the pigment responsible for skin and hair color) eczema recurrent vomiting jerking movements in arms and legs tremors epilepsy musty smell on the breath, skin and urine
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Introduction
Read about phenylketonuria (PKU), a rare genetic condition that's present from birth (congenital), where the body is unable to break down phenylalanine.
Diagnosing PKU
At around five days old, babies are offered newborn blood spot screening to check if they have PKU or a number of other conditions. This involves pricking your baby's heel to collect drops of blood t
Symptoms of PKU
PKU doesn't usually cause any symptoms if treatment is started early. Without treatment, PKU can damage the brain and nervous system, whichcanlead to learning disabilities. Other symptoms of untreat
TreatingPKU
Diet The main treatment for PKU is a low-protein diet that completely avoids high-protein foods such as meat, eggs and dairy products and controls the intake of many other foods, such as potatoes a
How PKU is inherited
The genetic cause (mutation) responsible forPKU is passed on by the parents, who are usually carriers and don't have any symptoms of the condition themselves. The way this mutation is passed on is kn
Adults with PKU
Manyadults with PKU find they function best while on a low protein diet. The current advice is for people with PKU to remain on a low protein diet for life. However, this wasn't always the case in th
PKU and pregnancy
Women with PKU have to take particular care during pregnancy, because high levels of phenylalanine can damage the unborn baby. Providing that phenylalanine levels are strictly controlled during pregn
Information about you
If you or your child has PKU, your clinical team will pass information about youon to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scientists look for
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