Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT-related mitochondrial disease.

ABSTRACT: Mitochondrial methionyl-tRNA formyltransferase (MTFMT) is required for the initiation of translation in mitochondria. Pathogenic variants in MTFMT have been described in association with clinical presentations with Leigh syndrome, as well with as multisystem involvement (particularly cardiac and ocular involvement). There is a spectrum of severity, but many reported presentations have been milder with a better prognosis than other pathogenic variants associated with Leigh syndrome. We describe the case of a 9-year-old boy homozygous for a pathogenic MTFMT variant (c.626C > T/p.Ser209Leu) who presented with hypertensive crisis on a background of hyperphagia and visual impairment. His clinical course was complicated by supraventricular tachycardia and severe autonomic instabili

SUBMITTER: Howard C 

PROVIDER: S-EPMC9981406 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature