Phenylketonuria

Phenylketonuria is an inherited metabolic disorder in which the body cannot completely break down the protein (amino acid) phenylalanine. This happens because a necessary enzyme, phenylalanine hydroxylase, is deficient. Because of this, phenylalanine builds up in the body’s cells and causes nervous system and brain damage.

Symptoms

An infant born with phenylketonuria will develop normally for the first few months. If left untreated, symptoms begin to develop by three to six months of age and may include:

• Delayed development
• Mental retardation
• Seizures
• Very dry skin, eczema, and rashes
• Distinctive “mousy” or “musty” odor of the urine, breath, and sweat
• Light complexion, light or blonde hair
• Irritability, restlessness, hyperactivity

Home remedies

• Because phenylketonuria is a problem of breaking down phenylalanine, the infant is given a special diet that is extremely low in phenylalanine.
• Tyrosine is used for treating phenylketonuria (PKU).

Medical Disclaimer

This information is not meant to be substituted for medical advice. Always consult a medical professional regarding any medical problems and before undertaking any treatment or dietary changes.