ArticleJournal of pediatric gastroenterology and nutrition2016
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.
Article in Journal of pediatric gastroenterology and nutrition, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 54 citations in OpenAlex.
- Deoxyguanosine kinase deficiency couples purine metabolism to innate immune activation and lipid accumulation in hepatocytes.Frontiers in immunology · 2026Article
- Unfolding the genetic map of monogenic liver diseases in Egypt.Human genetics · 2025Article
- Mitochondrial DNA Depletion Syndromes Gene Panel versus Clinical Exome Sequencing in Children with Suspected Mitochondrial Hepatopathies.Molecular syndromology · 2024Article
- Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.Orphanet journal of rare diseases · 2024Article
- Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.Brain communications · 2024Article
- MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2023Article
- Fulminant Neonatal Liver Failure in MPV 17-Related Mitochondrial DNA Depletion Syndrome.Case reports in hepatology · 2023Article
- Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia.Frontiers in endocrinology · 2023Article
- Mitochondrial Hepatopathies.Clinical liver disease · 2021Review
- Differential Diagnosis of Acute Liver Failure in Children: A Systematic Review.Pediatric gastroenterology, hepatology & nutrition · 2020Review
- Bridging transplantation with beads in paediatric acute liver failure.Nature reviews. Gastroenterology & hepatology · 2020Article
- Liver Diseases in the Perinatal Period: Interactions Between Mother and Infant.Hepatology (Baltimore, Md.) · 2020Review
- Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases.Molecular genetics and metabolism · 2019Review
- Efficient Reconstitution of Hepatic Microvasculature by Endothelin Receptor Antagonism in Liver Sinusoidal Endothelial Cells.Human gene therapy · 2019Article
- POLG-related disorders and their neurological manifestations.Nature reviews. Neurology · 2019Review
- Systems Biology Approaches Toward Understanding Primary Mitochondrial Diseases.Frontiers in genetics · 2019Review
- Replicative stress and alterations in cell cycle checkpoint controls following acetaminophen hepatotoxicity restrict liver regeneration.Cell proliferation · 2018Article
- Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Review
- Inherited metabolic disorders presenting as acute liver failure in newborns and young children: King's College Hospital experience.European journal of pediatrics · 2015Article
Corrections and comments
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Authors and funding
13 authors at 6 institutions in 1 country.
Funding
Abstract
backgroundMitochondrial liver disease (MLD), and in particular mitochondrial DNA (mtDNA) depletion syndrome (MDS) is an important cause of acute liver failure (ALF) in infancy. Early and accurate diagnosis is important because liver transplantation (LT) is often contraindicated. It is unclear which methods are the best to diagnose MLD in the setting of ALF.
objectiveThe aim of the study was to determine the incidence of MLD in children younger than 2 years with ALF and the utility of routine investigations to detect MLD.
methodsThirty-nine consecutive infants with ALF were admitted to a single unit from 2009 to 2011. All were extensively investigated using an established protocol. Genes implicated in mitochondrial DNA depletion syndrome were sequenced in all cases and tissue mtDNA copy number measured where available.
resultsFive infants (17%) had genetically proven MLD: DGUOK (n = 2), POLG (n = 2), and MPV17 (1). Four of these died, whereas 1 recovered. Two had normal muscle mtDNA copy number and 3 had normal muscle respiratory chain enzymes. An additional 8 children had low hepatic mtDNA copy number but pathogenic mutations were not detected. One of these developed fatal multisystemic disease after LT, whereas 5 who survived remain well without evidence of multisystemic disease up to 6 years later. Magnetic resonance spectroscopy did not distinguish between those with and without MLD.
conclusionsLow liver mtDNA copy number may be a secondary phenomenon in ALF.Screening for mtDNA maintenance gene mutations may be the most efficient way to confirm MLD in ALF in the first 2 years of life.
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Registered trials
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