Mitochondrial Trifunctional Protein Deficiency

In this episode, Dr Gepke Visser, Dr Sacha Ferdinandusse and (soon to be Dr) Marit Schwantje discuss the Netherlands' experience of disorders of MTP activity detected on newborn screening. They also shed light on late-presenting disease phenotypes related to thermo-sensitivity. Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands Marit Schwantje, et al https://doi.org/10.1002/jimd.12502 Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy Marit Schwantje, et al https://doi.org/10.1002/jimd.12503