Efstathia Chronopoulou

Abstract Primary mitochondrial diseases (PMDs) affect approximately 1 in 4300 individuals and cause early-onset neuromuscular and multisystem dysfunction with reduced lifespan. They result from pathogenic variants in mitochondrial or nuclear DNA that impair oxidative phosphorylation. Cytochrome c oxidase (COX; complex IV) deficiency is a well-established cause of PMD, leading to a broad spectrum of phenotypes.

A three-and-half-year-old child presented with speech delay and recent onset falls. He walked at 14 months of age but speech was delayed with limited vocabulary. He had become increasingly unsteady with weakness and pain in his legs in the past 6 months. The lower limb examination revealed no muscle wasting but hypertonia, hyper-reflexia, extensor plantar response and 4-beat ankle clonus bilaterally. He had bilateral foot-drop gait. The rest of the …

Aim The aim of the project was to establish whether patients with MCADD treated at Bristol Royal Hospital for Children (BRHC) are supplemented with l-carnitine and to establish further details for supplementation. Background MCADD is the most common type of fatty acid oxidation disorder in the UK.1l-carnitine is a co-factor in the oxidation of fatty acids in mitochondria and eliminates excess medium chain fatty acids.