Neonatal Phenylkketonuria

By: Chris Banks

Causes of Phenylketonuria

PKU which is short for Neonatal Phenylketonuria.PKU is inherited in a recessive pattern, that means both parents must pass on a defective version of the gene PAH for this child to inherit this disorder.
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These kids have PKU and the symptoms of PKU is Seizures, Tremors, or jerky hand and leg movements, hyperactivity, stunted growth, eczema, a distinct odor in breath, skin, or urine that is often described as musty, lighter skin, hair, and eye color than their family members.

What Chromosome or Gene is affected by PKU

PKU is a gene mutation on Chromosome 12 which can make mental retardation in the brain.

Affected Population

Although many babies are detected with this disease this passed gene is more common on peoples whose ancestors come from a specific region.These are the people from Europe or Native American.It's much less common in people for Africa, or Hispanic, or Asian Ancestory.
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How PKU is Inherited

PKU is inherited is sex linked.So the mothers that are pregnant I suggest you get tested for PKU.


PKU is a treatable disease.Treatment involves a diet that is extremely low in phenylalanine, partially when the child is growing.
My PKU Life