Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy

Leeuwen, Lisette; Lubout, Charlotte M. A.; Nijenhuis, Hessel P; Meiners, Linda C.; Vos, Yvonne J.; Herkert, Johanna C.

doi:10.1111/cge.14182

Cited by 3 publications

(1 citation statement)

References 4 publications

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“…Wang et al [ 69 ] identified two Chinese siblings with COQ10D6 who presented with severe metabolic acidosis, proteinuria, hypoalbuminemia, growth retardation, and muscle hypotonia and died in early infancy (mutations: [c.249C>G] [p.Tyr83Ter] in Exon 2 and [c.1381C>T] [p.Gln461Ter] in Exon 12 of COQ6 ). A 19-month-old patient with cardiomyopathy was found to have the COQ6 variant [c763G>A] [p.Gly255Arg]; the patient died from cardiorespiratory failure before CoQ10 supplementation could be started [ 70 ]. Nam et al [ 71 ] identified 12 children from 11 unrelated Korean families resulting from COQ6 mutations (c.189_191delGAA (p.Lys64del), c.484C>T (p.Arg162*), c.686A>C (p.Gln229Pro), and c.782C>T (p.Pro261Leu)).…”

Section: Clinical Studies Relating To Coq Gene Mutationsmentioning

confidence: 99%

Primary Coenzyme Q10 Deficiency: An Update

Mantle,

Millichap,

Castro-Marrero

et al. 2023

Antioxidants

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Coenzyme Q10 (CoQ10) has a number of vital functions in all cells, both mitochondrial and extra-mitochondrial. In addition to its key role in mitochondrial oxidative phosphorylation, CoQ10 serves as a lipid soluble antioxidant and plays an important role in fatty acid beta-oxidation and pyrimidine and lysosomal metabolism, as well as directly mediating the expression of a number of genes, including those involved in inflammation. Due to the multiplicity of roles in cell function, it is not surprising that a deficiency in CoQ10 has been implicated in the pathogenesis of a wide range of disorders. CoQ10 deficiency is broadly divided into primary and secondary types. Primary CoQ10 deficiency results from mutations in genes involved in the CoQ10 biosynthetic pathway. In man, at least 10 genes are required for the biosynthesis of functional CoQ10, a mutation in any one of which can result in a deficit in CoQ10 status. Patients may respond well to oral CoQ10 supplementation, although the condition must be recognised sufficiently early, before irreversible tissue damage has occurred. In this article, we have reviewed clinical studies (up to March 2023) relating to the identification of these deficiencies, and the therapeutic outcomes of CoQ10 supplementation; we have attempted to resolve the disparities between previous review articles regarding the usefulness or otherwise of CoQ10 supplementation in these disorders. In addition, we have highlighted several of the potential problems relating to CoQ10 supplementation in primary CoQ10 deficiency, as well as identifying unresolved issues relating to these disorders that require further research.

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Section: Clinical Studies Relating To Coq Gene Mutationsmentioning

confidence: 99%

Primary Coenzyme Q10 Deficiency: An Update

Mantle,

Millichap,

Castro-Marrero

et al. 2023

Antioxidants

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Cardiac manifestations in inherited metabolic diseases

Cuenca-Gómez,

Lara-Rojas,

Bonilla-López

2024

Current Problems in Cardiology

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Cardiac Manifestations in Inherited Metabolic Diseases

Javed,

Goswami,

Raj

et al. 2024

Cardiology in Review

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Inherited metabolic diseases (IMDs) stem from genetic defects affecting enzyme function within specific metabolic pathways, collectively constituting rare conditions with an incidence of less than 1/100,000 births. While IMDs typically manifest with multisystemic symptoms, cardiac manifestations are common, notably hypertrophic cardiomyopathy. Additionally, they can lead to dilated or restrictive cardiomyopathy, as well as noncompacted left ventricular cardiomyopathy. Rhythm disturbances such as atrioventricular conduction abnormalities, Wolff-Parkinson-White syndrome, and ventricular arrhythmias, along with valvular pathologies and ischemic coronary issues, are also prevalent. This study aims to provide a narrative review of IMDs associated with cardiac involvement, delineating the specific cardiac manifestations of each disorder alongside systemic symptoms pivotal for diagnosis.

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Expanding the clinical spectrum of primary coenzyme Q10 deficiency type 6: The first case with cardiomyopathy

Cited by 3 publications

References 4 publications

Primary Coenzyme Q10 Deficiency: An Update

Primary Coenzyme Q10 Deficiency: An Update

Cardiac manifestations in inherited metabolic diseases

Cardiac Manifestations in Inherited Metabolic Diseases

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