ReviewJournal of inherited metabolic disease2015
Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.
Review in Journal of inherited metabolic disease, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 127 papers.
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Who cites it
127 citing papers in PubMed, 216 citations in OpenAlex.
- New therapeutic hope for rare podocytopathies.Pediatric nephrology (Berlin, Germany) · 2026Review
- A muscle-enriched mitochondrial protein regulates postnatal heart growth through mitonuclear ubiquinone-PPAR signaling.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Kidney outcomes of coenzyme Q10 supplementation in patients with genetically confirmed CoQ10 nephropathy in Japan.Clinical and experimental nephrology · 2026Observational
- COQ8 chaperones coenzyme Q lipid intermediates through ATP-driven structural gating.Science advances · 2026Article
- Coenzyme Q4 gene compound heterozygous mutations cause hereditary spastic paraplegias: a case report.Journal of medical case reports · 2026Article
- Intermittent ketogenic fasting with medium-chain triglycerides improves ataxia in COQ8A-related coenzyme Q10 deficiency: A case report.Molecular genetics and metabolism reports · 2026Article
- A clickable CoQ imaging probe reveals that cellular uptake and lysosomal trafficking depend on CD36 and NPC1.Redox biology · 2026Article
- Ubiquinol in Fertility and Reproduction: A Conditionally Essential Nutrient for Critical Early-Life Stages.Nutrients · 2026Review
- Case Report: Pediatric nephrology-expanding the genotypic spectrum ofFrontiers in medicine · 2026Article
- The protective effects of coenzyme Q10 on blood pressure: a narrative review of anti-inflammatory and antioxidant mechanisms.Inflammopharmacology · 2025Review
- Tremors with dystonia as a predominant manifestation of primary coenzyme Q10 deficiency.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- PDSS1 mutations-associated steroid-resistant nephrotic syndrome: case report and review of literature.Pediatric nephrology (Berlin, Germany) · 2025Review
- Mechanisms of podocyte injury in genetic kidney disease.Pediatric nephrology (Berlin, Germany) · 2025Review
- Success of Coenzyme Q10 in Treating Steroid-Resistant Nephrotic Syndrome in Jordan: A Case Series.Cureus · 2025Article
- Familial thrombotic microangiopathy in a child with coenzyme Q10 deficiency-associated glomerulopathy.Pediatric nephrology (Berlin, Germany) · 2025Article
- In silico medicine and -omics strategies in nephrology: contributions and relevance to the diagnosis and prevention of chronic kidney disease.Kidney research and clinical practice · 2025Article
- Oocyte and dietary supplements: a mini review.Frontiers in cell and developmental biology · 2025Review
- Prenatal and progressive coenzyme QJournal of cachexia, sarcopenia and muscle · 2024Article
- Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.American journal of human genetics · 2024Article
- Article
67 more citing papers are in PubMed but not listed here.
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Coenzyme Q(10) is a remarkable lipid involved in many cellular processes such as energy production through the mitochondrial respiratory chain (RC), beta-oxidation of fatty acids, and pyrimidine biosynthesis, but it is also one of the main cellular antioxidants. Its biosynthesis is still incompletely characterized and requires at least 15 genes. Mutations in eight of them (PDSS1, PDSS2, COQ2, COQ4, COQ6, ADCK3, ADCK4, and COQ9) cause primary CoQ(10) deficiency, a heterogeneous group of disorders with variable age of onset (from birth to the seventh decade) and associated clinical phenotypes, ranging from a fatal multisystem disease to isolated steroid resistant nephrotic syndrome (SRNS) or isolated central nervous system disease. The pathogenesis is complex and related to the different functions of CoQ(10). It involves defective ATP production and oxidative stress, but also an impairment of pyrimidine biosynthesis and increased apoptosis. CoQ(10) deficiency can also be observed in patients with defects unrelated to CoQ(10) biosynthesis, such as RC defects, multiple acyl-CoA dehydrogenase deficiency, and ataxia and oculomotor apraxia.Patients with both primary and secondary deficiencies benefit from high-dose oral supplementation with CoQ(10). In primary forms treatment can stop the progression of both SRNS and encephalopathy, hence the critical importance of a prompt diagnosis. Treatment may be beneficial also for secondary forms, although with less striking results.In this review we will focus on CoQ(10) biosynthesis in humans, on the genetic defects and the specific clinical phenotypes associated with CoQ(10) deficiency, and on the diagnostic strategies for these conditions.
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