SNP Shot: Genomic Insights

Mitochondrial trifunctional protein (MTP) deficiency is an uncommon disorder that disrupts the body's ability to process specific fats into energy, especially when food intake is limited (fasting periods).

The signs and symptoms of MTP deficiency can manifest in infancy or later in life. Infants may exhibit symptoms such as difficulty feeding, low energy levels (lethargy), low blood sugar (hypoglycemia), weak muscles (hypotonia), and liver dysfunction. These infants also face a heightened risk of severe heart complications, respiratory issues, coma, and sudden death. In individuals who develop MTP deficiency later in life, potential symptoms include hypotonia, muscle aches, muscle tissue breakdown, and nerve damage in the hands and feet (peripheral neuropathy).

Fasting or illnesses, like viral infections, can trigger complications related to MTP deficiency. This condition is sometimes misdiagnosed as Reye syndrome, a serious illness that can affect children who seem to be recovering from viral infections like chickenpox or influenza. Reye syndrome is often linked to aspirin use during such viral illnesses.

Inheritance:

MTP deficiency follows an autosomal recessive inheritance pattern. This means that for a person to develop the condition, they must inherit a mutated copy of the responsible gene from both parents. While each parent carries one copy of the mutated gene, they usually do not display any symptoms of the disorder themselves.