Mitochondrial Trifunctional Protein Deficiency - Diagnosis

Diagnosis

Onset of this disorder may begin during infancy or later in life. Signs and symptoms of the early onset form can include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), muscle weakness (hypotonia), liver problems, and a high risk for complications such as life-threatening heart and breathing problems, coma, and sudden unexpected death. The late-onset form is usually less severe; signs and symptoms can include hypotonia, muscle pain, a breakdown of muscle tissue, and abnormalities in the nervous system that affect arms and legs (peripheral neuropathy). Episodes of mitochondrial trifunctional protein deficiency can be triggered by periods of fasting or by illnesses such as viral infections. Diagnosis of this disorder is often confirmed using tandem mass spectrometry.