EARLY SIGNS
There are three distinct forms of trifunctional protein deficiency (TFP) based on the age of onset: early, childhood, and mild. If your baby has early TFP, you will start seeing signs between birth and age 2, whereas individuals with childhood TFP show signs after infancy. Mild TFP is very uncommon. If your child has mild TFP, he or she could start showing signs any time between 2 years of age and adulthood.
Signs of early TFP include:
- Poor appetite
- Sleeping longer or more often
- Tiredness
- Weak muscle tone (called hypotonia)
- Fever
- Vomiting
- Diarrhea
- Low blood sugar (called hypoglycemia)
- Irritability
- Behavior changes
- No reflexes or pain responses
- Developmental delays
Many of these signs may occur when your baby eats foods that his or her body cannot break down. They can be triggered by long periods of time without eating, illnesses, and infections.
CAUSES
When we eat food, enzymes help break it down. Some enzymes help break down fats into their building blocks, called fatty acids. Other enzymes break down these fatty acids.
Fatty acids are built like chains, and these chains come in various lengths. They are classified as either short, medium, long, or very long. Different enzymes are made to break down different length fatty acids. An enzyme complex (multiple enzymes attached to each other) called trifunctional protein helps break down “long” fatty acid chains.
If your baby has trifunctional protein deficiency (TFP), then his or her body either does not make enough or makes non-working trifunctional protein enzymes. This is harmful to the body because your baby’s heart and muscles need fatty acids for energy. Your baby’s body also needs to break down fatty acids when there is not enough sugar, such as between meals.
TFP is an autosomal recessive genetic condition. This means that a child must inherit two copies of the non-working gene for TFP, one from each parent, in order to have the condition. The parents of a child with an autosomal recessive condition each carry one copy of the non-working gene, but they typically do not show signs and symptoms of the condition. While having a child with TFP is rare, when both parents are carriers, they can have more than one child with the condition.
TREATMENT
Your baby will need to be on a restricted diet in order to avoid certain high-fat foods that your baby’s body cannot break down. A dietician or a nutritionist can help you plan a diet that keeps your baby healthy while giving him or her the nutrients necessary for healthy growth.
Your baby will also need to eat often to avoid many of the signs mentioned in the Early Signs section.
Supplements and Medications
Your baby’s doctor might recommend supplements for your baby. Medium Chain Triglyceride (MCT) oil is a supplement that provides energy for your baby because it contains fatty acids that people with trifunctional protein deficiency (TFP) can digest. Talk to your baby’s doctor before starting this treatment.
Some children with TFP also take prescription L-carnitine supplements. L-carnitine is a substance that the body makes naturally, but your baby’s body might not make enough of it. Taking L-carnitine can help your baby with TFP break down fats and remove harmful substances from the body. Your baby’s doctor will need to write you a prescription for these supplements.
Lifestyle Changes
You will need to keep your baby out of extremely hot and cold temperatures. Extreme temperatures can promote muscle breakdown.
EXPECTED OUTCOMES
If your child has childhood or mild trifunctional protein deficiency (TFP), he or she can live a healthy life with the help of treatment. Some children could still have hypoglycemic (low blood sugar) episodes, even with treatment.
Babies with early TFP may benefit from treatments. However, most babies are at risk of dying young from heart and breathing problems, even with treatment.
If TFP is not treated, hypoglycemic episodes can lead to coma or even death.