Work

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

Year: 2025

Type: article

Abstract: 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.

Source: Karnataka Pediatric Journal

DOI: 10.25259/kpj_52_2024

Authors: Vykuntaraju K. Gowda, Uddhava V. Kinhal, Varunvenkat M. Srinivasan, Sasmita Devi Agrawal

Institution: Indira Gandhi Institute of Child Health

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

OpenAlex ID: W4407594480

FWCI:

Cites: 9

Cited by:

Related to: 10