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Plasma coenzyme Q10 status is impaired in selected genetic conditions

Raquel Montero1,2, Delia Yubero1, Maria C Salgado1

  • 1Inborn errors of metabolism Unit, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.

Scientific Reports
|January 30, 2019
PubMed

Insights

Low plasma Coenzyme Q10 (CoQ) levels are common in patients with phenylketonuria (PKU) and mucopolysaccharidoses (MPS). Monitoring CoQ status is recommended for these and other inborn errors of metabolism (IEM) to prevent cardiovascular issues.

Area of Science:

  • Biochemistry
  • Pediatrics
  • Metabolic Disorders

Background:

  • Chronic low plasma Coenzyme Q10 (CoQ) may contribute to cardiovascular dysfunction.
  • Understanding CoQ levels in pediatric and young adult patient groups is crucial for preventative care.

Purpose of the Study:

  • To retrospectively analyze plasma CoQ concentrations in a large cohort of pediatric and young adult patients.
  • To compare CoQ levels across various disease groups including phenylketonuria (PKU), mucopolysaccharidoses (MPS), and other inborn errors of metabolism (IEM).

Main Methods:

  • Evaluated plasma CoQ values in 597 individuals (1 month to 43 years) from 2005-2016.
  • Classified patients into control, PKU, MPS, other IEM, neurogenetic, and neurological disease groups.
  • Measured plasma total CoQ using high-performance liquid chromatography with electrochemical and ultraviolet detection.

Main Results:

  • Significantly lower plasma CoQ values were observed in PKU and MPS groups compared to controls and neurological patients.
  • The IEM group exhibited intermediate CoQ values, not significantly different from controls.
  • Classic PKU patients showed a significant association with low plasma CoQ levels; neurogenetic and other neurological patients had low CoQ prevalence (<8%).

Conclusions:

  • Plasma CoQ monitoring is advisable for patients with specific inborn errors of metabolism, particularly PKU and MPS.
  • Monitoring is also recommended for IEM patients on protein-restricted diets to prevent suboptimal CoQ status.
  • Early detection and management of low CoQ levels may help prevent potential cardiovascular complications in at-risk pediatric and young adult populations.

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