A rare cause of combined floppy infant: Combined oxidative phosphorylation defect: 11 due to variant in RMND1

Homozygous or compound heterozygous mutations in the required for meiotic nuclear division 1 homolog (RMND1) gene are reported to cause combined oxidative phosphorylation defect type 11. An 11-month-old boy presented with developmental delay, floppiness, and paucity of limb movements. On examination, the child had failure to thrive, dysmorphism, and a floppy. Investigations showed elevated creatinine, hyponatremia, hyperkalaemia, and metabolic acidosis. Whole exome sequencing revealed a homozygous variant known as c.1349G>C in the RMND1 gene. The child is currently on dialysis and has a mitochondrial cocktail. For any child presenting with failure to thrive, renal involvement, and myopathy an oxidative phosphorylation defect needs to be suspected.