The Spectrum of clinical manifestations in newborns with the COQ4 mutation: case series and literature review.

ABSTRACT:

Background

Coenzyme Q10 (CoQ10) plays an important role in the electron transport chain within the human mitochondrial respiratory chain. The manifestations of this deficiency exhibit a diverse range. This study investigates the clinical manifestations of primary coenzyme Q10 deficiency in neonates with the COQ4 mutation to improve the diagnosis of the disease and the prognosis through targeted treatment.

Methods

We report 4 patients with primary coenzyme Q10 deficiency by COQ4 variants in neonates. A comprehensive literature search and review for original articles and case reports with COQ4 mutation published from January 1989 to November 2023 was performed through Pubmed. We review clinical manifestations, diagnostic approaches, and treatment monitoring in these and 20 pre

SUBMITTER: Pan P 

PROVIDER: S-EPMC11466766 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature