Trifunctional protein deficiency

Trifunctional protein (TFP) deficiency, Mitochondrial trifunctional protein deficiency

Overview

Type of disease: Rare conditions

Trifunctional protein deficiency (TFP) is a rare genetic condition. TFP results from a mutation or error in a person’s DNA or genes. Due to this mistake, people with TFP have problems with breaking down certain fats properly. TFP occurs when the body does not make enough or makes non-working TFP enzyme. Enzymes are special proteins that help break down the food we eat into the pieces our body can use for energy. In this case, the job of the TFP enzyme is to break down the long-chain fatty acids, which are parts of the fat found in our food. Those with TFP can’t use this type of fatty acid for energy because it can't be broken down. This also causes a build-up of too many unused long-chain fatty acids, which can be harmful to the body.

There are three forms of TFP: early, childhood, and mild. With early TFP, the person may see signs between birth and age two, while those with childhood TFP show signs after infancy. Mild TFP is very uncommon. If the person has mild TFP, signs may begin any time between age two and adulthood. The symptoms may include irritability, sleeping longer, tiredness, vomiting, weak muscle tone (hypotonia), poor appetite, fever, diarrhea, low blood sugar (hypoglycemia), no reflexes or pain responses, developmental delays, and behavior changes. If untreated, individuals are at risk for developing life-threatening heart and breathing problems; and low blood sugar episodes can lead to coma or death. Diet and supplements can prevent many of these complications. Many babies are screened for TFP at birth so that treatment can begin early, however the conditions included in newborn screening differ from state to state. For more information, visit http://www.babysfirsttest.org. TFP is an autosomal recessive trait. A genetic counselor can help you understand the genetics. Also talk with your doctor and specialists to decide on the best treatment plan. Support groups are also a good source of information.

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