Phenylketonuria (PKU) Test

A phenylketonuria (PKU) test is done to check whether a newborn baby has the enzyme needed to use phenylalanine in his or her body. Phenylalanine is an amino acid that is needed for normal growth and development. If a baby's body does not have the enzyme that changes phenylalanine into another amino acid called tyrosine, the phenylalanine level builds up in the baby's blood and can cause brain damage, seizures, and intellectual disability.

Lauren’s Story

Lauren is 13 and lives in Shreveport, LA. Her parents did not know she had PKU until 19 days after birth. When she was diagnosed, her family was “freaked out” and “scared”; her pediatrician had no other PKU babies under his care and immediately referred the family to a PKU clinic at Tulane. There, the clinic staff had a PKU workshop, explained the disease, and provided formula and guidelines for diet. According to Lauren’s family, the dietitian at the clinic “put the fear of God” into the family about the importance of sticking to diet. As a small child, Lauren had blood tests every week to ensure blood Phe levels were within normal/healthy range.

Low Protein Hot Chocolate

Ingredients:
2 tablespoons Enjoy Life Chocolate Chips* or chocolate chips of choice
1/2 or 1 Tablespoon sugar or agave
pinch of salt
1 cup of So Delicious Coconut Milk* or "milk" of choice (Rice Dream, etc)

How to prepare:
Melt chocolate in microwave for 10 seconds at a time until melted in mug. Stir in sugar or agave. Heat milk until steaming. Add to melted chocolate for a super creamy chocolaty treat. Add a marshmallow for extra credit.

Symptoms Of PKU Patient

Symptoms of phenylketonuria (PKU) usually develop within a few months after birth, after phenylalanine has built up in a baby's system from consuming the protein in formula or breast milk. Before birth, the mother's body filters out the excess phenylalanine for the baby (fetus).

A musty odor to the skin, hair, and urine.

Vomiting and diarrhea, leading to weight loss.

Irritability.

Skin problems, such as dry skin, or itchy skin rashes (eczema).

Sensitivity to light (photosensitivity).

Unusual behavior, such as screaming episodes, repetitive rocking, head banging, and arm biting (common in older children).

Loss of skills and abilities related to severe intellectual disability.

Growth and developmental delays.