2021
DOI: 10.1016/j.ymgme.2021.06.007
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Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening

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Cited by 11 publications
(18 citation statements)
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“…G in MT-ATP6. 3 In a study of 321 patients carrying the variant m.8344A . G, several asymptomatic patients and a few patients with isolated hyper-CKemia have been reported without providing the specific number of these patients.…”
Section: Discussionmentioning
confidence: 99%
“…G in MT-ATP6. 3 In a study of 321 patients carrying the variant m.8344A . G, several asymptomatic patients and a few patients with isolated hyper-CKemia have been reported without providing the specific number of these patients.…”
Section: Discussionmentioning
confidence: 99%
“…Utilization of ES-based NBS is advantageous as it allows for screening of several monogenic conditions that do not have a consistent analyte that can be measured using MS/MS. For instance, mitochondrial disorders and proximal urea cycle disorders have historically been impossible to screen, despite the availability of therapies and interventions [ 16 , 17 ]. ES-based NBS could also shorten the diagnostic odysseys for those genetic diseases where there is no precise treatment, but where early diagnosis can have a significant impact on the medical care and parental perspectives.…”
Section: Next-generation Sequencing For Newborn Screeningmentioning
confidence: 99%
“…These disorders classically present with severe, life‐threatening hyperammonemia in the newborn period; however, early identification and medical management of affected individuals can dramatically improve outcomes. Decreased citrulline is also a feature of certain mitochondrial disorders (Atkuri et al, 2009), including MT‐ATP6 mitochondrial disease (Balasubramaniam et al, 2016; Larson et al, 2019; Mori et al, 2014; Peretz et al, 2021), such that affected individuals may similarly be identified through NBS. Like proximal UCDs, MT‐ATP6 mitochondrial disease can have a severe neonatal presentation, and therefore the ability to efficiently identify and differentiate these disorders is important for providing appropriate medical management to symptomatic newborns, as well as guidance for family members.…”
Section: Introductionmentioning
confidence: 99%
“…Factors found to be associated with earlier age of onset and/or increased clinical severity include increased heteroplasmy or homoplasmy and the m.8993T>G genotype (Ganetzky et al, 2019; Na & Lee, 2022; Stendel et al, 2020). Other factors may also contribute to the clinical heterogeneity, including heteroplasmy within relevant but untested tissues and the mitochondrial haplogroup or genetic background on which the pathogenic variant exists (Peretz et al, 2021).…”
Section: Introductionmentioning
confidence: 99%