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

Medically Reviewed by a doctor on 21 Dec 2018

Articles for phenylketonuria

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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