Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

No abstract is available for this paper.

• Publication year

  2017

• Venue

  Genetics in Medicine

• Publication date

  2017-07-27

• Fields of study

  Medicine

• Identifiers
  DOI 10.1038/gim.2017.107PMID 28749475PMCID PMC7804217
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Mitochondrial disease and endocrine dysfunction

  2017influential reference
• Ophthalmological findings in 74 patients with mitochondrial disease

  2017cited by this paper
• [Mitochondrial diseases and epilepsy].

  2017cited by this paper
• Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure

  2016cited by this paper
• Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction

  2016cited by this paper
• Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.

  2016cited by this paper
• "Mitochondrial neuropathies": A survey from the large cohort of the Italian Network.

  2016cited by this paper
• Mitochondrial Cardiomyopathies

  2016cited by this paper
• Mitochondrial neuropathy: considerations on pathogenesis

  2016cited by this paper
• Movement disorders in mitochondrial diseases.

  2016cited by this paper
• Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.

  2016cited by this paper
• Pseudo‐obstruction, stroke, and mitochondrial dysfunction: A lethal combination

  2016cited by this paper
• Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.

  2016cited by this paper
• Solid organ transplantation in primary mitochondrial disease: Proceed with caution.

  2016cited by this paper
• Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

  2016cited by this paper
• Oral toxicity study of certain plant extracts containing pyrrolizidine alkaloids.

  2016cited by this paper
• Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

  2016cited by this paper
• Mitochondrial function at extreme high altitude

  2016cited by this paper
• Reply: Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.

  2016cited by this paper
• The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes

  2015cited by this paper
• MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.

  2015cited by this paper
• Mitochondrial Diseases and Cardiomyopathies.

  2015cited by this paper
• Essential role of mitochondrial energy metabolism in Foxp3+ T‐regulatory cell function and allograft survival

  2015cited by this paper
• Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy

  2015cited by this paper
• Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases.

  2015influential reference
• LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure.

  2015cited by this paper
• Causes of Death in Adults with Mitochondrial Disease.

  2015cited by this paper
• The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.

  2015cited by this paper
• Obstetric complications in carriers of the m.3243A>G mutation, a retrospective cohort study on maternal and fetal outcome.

  2015cited by this paper
• Epilepsy in adults with mitochondrial disease: A cohort study

  2015cited by this paper
• Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission

  2015cited by this paper
• Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

  2014cited by this paper
• Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

  2014cited by this paper
• Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges.

  2014cited by this paper
• A multicenter study on Leigh syndrome: disease course and predictors of survival

  2014cited by this paper
• Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation.

  2014cited by this paper
• Treatment of Mitochondrial Disorders

  2014cited by this paper
• Sleep Disorders Associated with Primary Mitochondrial Diseases

  2014cited by this paper
• Predisposition to infection and SIRS in mitochondrial disorders: 8 years' experience in an academic center.

  2014cited by this paper
• Gastrointestinal and hepatic manifestations of mitochondrial disorders

  2013cited by this paper
• Endocrine disorders in mitochondrial disease☆

  2013influential reference
• Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management.

  2013cited by this paper
• Mitochondrial DNA response to high altitude: A new perspective on high-altitude adaptation

  2013cited by this paper
• Mitochondrial disease—an important cause of end-stage renal failure

  2013cited by this paper
• New treatments for mitochondrial disease—no time to drop our standards

  2013cited by this paper
• Metabolic regulation of T lymphocytes.

  2013cited by this paper
• Mitochondrial disease and epilepsy

  2012cited by this paper
• Psychiatric symptoms of patients with primary mitochondrial DNA disorders

  2012cited by this paper
• Mitochondrial Diabetes in Children: Seek and You Will Find It

  2012cited by this paper
• Nerve and muscle involvement in mitochondrial disorders: an electrophysiological study

  2012cited by this paper
• Cardiac involvement in mitochondrial DNA disease: clinical spectrum, diagnosis, and management

  2012cited by this paper
• Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy

  2012cited by this paper
• Treatment for mitochondrial disorders.

  2012cited by this paper
• Characteristics of intestinal pseudo-obstruction in patients with mitochondrial diseases.

  2012cited by this paper
• Mitochondrial diseases and epilepsy

  2012cited by this paper
• Pearson syndrome: unique endocrine manifestations including neonatal diabetes and adrenal insufficiency.

  2012cited by this paper
• Psychiatric involvement in adult patients with mitochondrial disease

  2011cited by this paper
• POLG-related disorders

  2011cited by this paper
• Metabolic acidosis with topiramate and zonisamide: an assessment of its severity and predictors

  2011cited by this paper
• Epileptic seizures in infants and children with mitochondrial diseases.

  2011cited by this paper
• Renal involvement in mitochondrial cytopathies

  2011cited by this paper
• A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy

  2011cited by this paper
• Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.

  2010cited by this paper
• Coenzyme Q and mitochondrial disease.

  2010cited by this paper
• Evaluation of Immunization Rates and Safety Among Children With Inborn Errors of Metabolism

  2009cited by this paper
• Ophthalmological findings in children and young adults with genetically verified mitochondrial disease

  2009cited by this paper
• Epilepsy and Respiratory Chain Defects in Children with Mitochondrial Encephalopathies

  2008cited by this paper
• Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency

  2008cited by this paper
• Mitochondrial DNA A3243G mutation involved in familial diabetes, chronic intestinal pseudo-obstruction and recurrent pancreatitis.

  2008cited by this paper
• Pre-eclampsia and magnesium toxicity with therapeutic plasma level in a woman with m.3243A>G melas mutation

  2008cited by this paper
• Psychiatric Comorbidity in 36 Adults with Mitochondrial Cytopathies

  2007cited by this paper
• Long-term Outcome and Clinical Spectrum of 73 Pediatric Patients With Mitochondrial Diseases

  2007cited by this paper
• Hematological Manifestations of Primary Mitochondrial Disorders

  2007cited by this paper
• Pregnancy with mitochondrial encephalopathy lactic acidosis and stroke-like episodes (MELAS syndrome) leading to confusion in the diagnosis of pulmonary embolism

  2007cited by this paper
• Mitochondrial DNA polymerase-gamma and human disease.

  2006cited by this paper
• Mitochondrial DNA polymerase-γ and human disease

  2006cited by this paper
• Early‐onset familial parkinsonism due to POLG mutations

  2006cited by this paper
• Renal pathology in children with mitochondrial diseases

  2005cited by this paper
• Mitochondrial hyperpolarization: a checkpoint of T-cell life, death and autoimmunity.

  2004cited by this paper
• Response of Skeletal Muscle Mitochondria to Hypoxia

  2003cited by this paper
• Mitochondrial respiratory-chain diseases.

  2003cited by this paper
• Hypothalamic growth hormone deficiency and supplementary GH therapy in two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.

  2002cited by this paper
• Leber hereditary optic neuropathy

  2002cited by this paper
• Pregnancy with mitochondrial encephalopathy, lactic acidosis, and strokelike episodes syndrome.

  1999cited by this paper
• Electrophysiological study of neuromuscular system involvement in mitochondrial cytopathy.

  1999cited by this paper
• Cochlear origin of hearing loss in MELAS syndrome

  1998cited by this paper
• Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with deterioration during pregnancy.

  1998cited by this paper
• PREGNANCY AND DELIVERY COMPLICATED BY MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE‐LIKE EPISODES

  1998cited by this paper
• Management of pulmonary complications in neuromuscular disease.

  1998cited by this paper
• Diagnosis and treatment of chronic intestinal pseudo-obstruction in children: report of consensus workshop.

  1997cited by this paper
• Hypoparathyroidism and Deafness Associated with Pleioplasmic Large Scale Rearrangements of the Mitochondrial DNA: A Clinical and Molecular Genetic Study of Four Children with Kearns-Sayre Syndrome

  1997cited by this paper
• A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA.

  1994cited by this paper
• Endocrine abnormalities in mitochondrial myopathy with external ophthalmoplegia

  1992cited by this paper
• Respiratory failure revealing mitochondrial myopathy in adults.

  1992cited by this paper
• Mitochondrial myoneuropathy with respiratory failure and myoclonic epilepsy. A case report with biochemical studies.

  1985cited by this paper
• The Delphi method : techniques and applications

  1976cited by this paper

• Current perspectives on circadian regulation of mitochondrial dynamics in mood disorders and perioperative stress

  2026cites this paper
• Clinical and genetic spectrum of pediatric mitochondrial disorders in china: insights from a 47-case genetically confirmed cohort.

  2026cites this paper
• Hypertrophic cardiomyopathy as a novel phenotypic feature of NSUN3-related mitochondrial disease: a case report with review of the literature

  2026cites this paper
• Sleep in MELAS syndrome

  2026cites this paper
• Reviewing the thoroughness of human safety testing for succinate dehydrogenase inhibitors: fluopyram as a case study.

  2026cites this paper
• Super-Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review.

  2026cites this paper
• Therapies for Mitochondrial Disease: Past, Present, and Future

  2025cites this paper
• Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders

  2025cites this paper
• Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy

  2025cites this paper
• A potential explanation of the pathophysiology of vigabatrin-associated brain abnormalities on MRI.

  2025cites this paper
• Evidence-based guidelines for the pharmacological treatment of migraine

  2025cites this paper
• Approach to the Patient - Mitochondrial Diabetes: Contemporary Cases and Precision Medicine Approach.

  2025cites this paper
• New laboratory indicators of polysystemic mitochondrial failure in children

  2025cites this paper
• Unfolding the cognitive process underlying computer-based scientific conceptual change with eye tracker: Behavioral performance and sequential analysis of attention

  2025cites this paper
• Adult-onset Leigh syndrome with recurrent seizures and peripheral neuropathy due to the 9176T > C mutation: a case report and literature review

  2025cites this paper
• Melatonin alleviates oxidative stress induced damage in human iPSCs harboring mtDNA 3243A>G mutation via MAPK pathway

  2025cites this paper
• A 3-hit metabolic signaling model for the core symptoms of autism spectrum disorder.

  2025cites this paper
• The mitochondrial disease biomarker GDF15 is dynamic, quantifiable in saliva, and correlates with disease severity.

  2025cites this paper
• Mitochondrial heteroplasmy-phenotype correlation and response to glucose lowering therapy in subjects with m.3243A > G mutations.

  2025cites this paper
• Advances in Management of Mitochondrial Myopathies

  2025cites this paper
• Heightened sensitivity to adverse effects of metformin in mtDNA mutant patient cells.

  2025cites this paper
• Genetic and reproductive strategies to prevent mitochondrial diseases.

  2025cites this paper
• Mitochondrial cardiomyopathies: pathogenesis, diagnosis, and treatment.

  2025cites this paper
• Cardiac magnetic resonance findings in mitochondrial disease: a guide for clinicians

  2025cites this paper
• Endocrine Dysfunction in Primary Mitochondrial Diseases

  2025cites this paper
• Diabetes management in maternally inherited diabetes and deafness (MIDD): A review and a proposed treatment algorithm

  2025influential citation
• Practical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria

  2025cites this paper
• Fatal pneumonia in a patient with Kearns-Sayre syndrome case report and literature review

  2025cites this paper
• Holistic Exome-Based Genetic Testing in Adults With Epilepsy

  2025cites this paper
• Emergency Management of Inherited Metabolic Disorders in Acute Surgical and Trauma Settings.

  2025cites this paper
• Should the "mitochondrial cocktail" be a default option? An opinion.

  2025cites this paper
• Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

  2025cites this paper
• Mitochondrial cardiomyopathy with skeletal muscle myopathy caused by m.3260A > G mutation in MT-TL1 gene: a case report

  2025cites this paper
• Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic

  2025cites this paper
• The genotype/phenotype conundrum of inherited mitochondrial disorders: Insights from a survey of mtDNA mutations associated with Leigh syndrome in complex I.

  2025cites this paper
• Towards an agreed approach to investigate children with developmental regression

  2025cites this paper
• Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Patients with m.3243A > G have High Prevalence of Wolff-Parkinson-White Syndrome.

  2025cites this paper
• Reactive Oxygen Species-Mediated Mitochondrial-Targeted Therapeutics in Hepatic Disorders: Current Progress and Future Opportunities.

  2025cites this paper
• Compensatory activity of the PC-ME1 metabolic axis underlies differential sensitivity to mitochondrial complex I inhibition

  2024cites this paper
• Using a Previsit Questionnaire for Initial Visits in a Pediatric Mitochondrial Clinic: Perspectives of Parents, a Specialty Physician, and a Clinical Coordinator

  2024cites this paper
• Clinical profiles in autism spectrum disorder: Enhancing diagnosis, treatment, and overall health outcomes

  2024cites this paper
• Inherited metabolic epilepsies-established diseases, new approaches.

  2024cites this paper
• Uncommon case of mitochondrial disease: Mild amyotrophy of the legs and symmetrical lipomatosis of the arms

  2024cites this paper
• Mitochondrial disorders are associated with morphological neuromuscular junction defects.

  2024cites this paper
• Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome

  2024cites this paper
• Noninvasive Assessments of Mitochondrial Capacity in People with Mitochondrial Myopathies

  2024cites this paper
• Biomarkers of mitochondrial dysfunction in autism spectrum disorder: A systematic review and meta-analysis.

  2024cites this paper
• Mitochondrial dysfunction: mechanisms and advances in therapy

  2024cites this paper
• Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network survey

  2024cites this paper
• Diabetes Associated With Maternally Inherited Diabetes and Deafness (MIDD): From Pathogenic Variant to Phenotype

  2024cites this paper
• Primary Coenzyme Q10 Deficiency-Related Ataxias

  2024cites this paper
• FDXR variants cause adrenal insufficiency and atypical sexual development

  2024cites this paper
• Multi-Allelic Mitochondrial DNA Deletions in an Adult Dog with Chronic Weakness, Exercise Intolerance and Lactic Acidemia

  2024cites this paper
• MT-TN mutations lead to progressive mitochondrial encephalopathy and promotes mitophagy.

  2024cites this paper
• Late-onset mitochondrial encephalopathy with lactic acidosis and stroke-like episodes and the role of serial imaging

  2024cites this paper
• Mitochondrial encephalopathies and myopathies: Our tertiary center's experience.

  2024cites this paper
• Administration of bicarbonates through percutaneous gastrostomy with continuous nocturnal infusion in a patient with Kearns-Sayre disease: a life changing therapeutical paradigm

  2024cites this paper
• Arginine Supplementation in MELAS Syndrome: What Do We Know about the Mechanisms?

  2024cites this paper
• The diagnostic and therapeutic implications of phenocopies and mimics of Hypertrophic Cardiomyopathy.

  2024cites this paper
• Case 12-2024: A 58-Year-Old Woman with Confusion, Aphasia, and Abnormal Head Imaging.

  2024cites this paper
• Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single Center Experience

  2024cites this paper
• Clinical trials in mitochondrial diseases.

  2023cites this paper
• Complex neurological and multisystem presentations in mitochondrial disease.

  2023cites this paper
• Currently available therapies in mitochondrial disease.

  2023cites this paper
• Stroke-like episodes in adult mitochondrial disease.

  2023cites this paper
• Clinical score for early diagnosis and treatment of stroke-like episodes in MELAS syndrome

  2023cites this paper
• New Therapeutic Approaches to Inherited Metabolic Pediatric Epilepsies

  2023cites this paper
• Treatment of neurometabolic epilepsies: Overview and recent advances.

  2023cites this paper
• Endocrine features of primary mitochondrial diseases

  2023cites this paper
• Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up

  2023cites this paper
• A clinical approach to diagnosis and management of mitochondrial myopathies

  2023influential citation
• The history of mitochondrial research in Japan

  2023cites this paper
• IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report

  2023cites this paper
• Endocrine Challenges in Myoclonic Epilepsy With Ragged Red Fibers Syndrome: A Case Report

  2023cites this paper
• Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options

  2023cites this paper
• Α rare case of myopathy, lactic acidosis, and severe rhabdomyolysis, due to a homozygous mutation of the ferredoxin‐2 (FDX2) gene

  2023cites this paper
• Mitochondrial encephalomyopathy.

  2023cites this paper
• Reply to: Mitochondrial disorders are not spinocerebellar ataxias but may resemble them in some aspects.

  2023cites this paper
• Mitochondrial complex III activity: from invasive muscle biopsies to patient-friendly buccal swab analysis

  2023cites this paper
• Navigating Life With Primary Mitochondrial Myopathies: The Importance of the Patient Voice and Implications for Clinical Practice

  2023cites this paper
• Metabolic adaptation of human skin fibroblasts to ER stress caused by glycosylation defect in PMM2-CDG.

  2023cites this paper
• Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting

  2023cites this paper
• Commentary: The mutations and clinical variability in maternally inherited diabetes and deafness: an analysis of 161 patients

  2023cites this paper
• Skeletal Health in Patients With Mitochondrial Diabetes: Case Series and Review of Literature

  2023cites this paper
• Anesthetic Management of a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome During Extensive Spinal Surgery With Both Motor Evoked Potentials and Somatosensory Evoked Potentials: A Case Report

  2023cites this paper
• Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?

  2023cites this paper
• Surgical Complication Following Urgent Appendectomy and Considerations in Surgical Management of a Patient With Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)

  2023cites this paper
• Why Don’t More Mitochondrial Diseases Exhibit Cardiomyopathy?

  2023cites this paper
• Genetics of Mitochondrial Cardiomyopathy

  2023cites this paper
• Canalopatías y mitocondriopatías

  2023cites this paper
• Identification of m.3243A>G mitochondrial DNA mutation in patients with cerebellar ataxia.

  2023cites this paper
• Mitochondrial Myopathy in a 21-Year-Old Man Presenting With Bilateral Lower Extremity Weakness and Swelling

  2023cites this paper
• Myopathy and Ophthalmologic Abnormalities in Association With Multiple Skeletal Muscle Mitochondrial DNA Deletions

  2023cites this paper
• POLG mutation setting off 'FIRES'.

  2022cites this paper
• Screening and prevalence of cardiac abnormalities on electro- and echocardiography in a large cohort of patients with mitochondrial disease.

  2022cites this paper
• Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).

  2022cites this paper
• Identifying trajectories of fatigue in patients with primary mitochondrial disease due to the m.3243A > G variant

  2022influential citation
• Qualitative exploration of the lived experience of adults diagnosed with primary mitochondrial disease

  2022cites this paper
• The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype

  2022cites this paper
• Mitochondrial stress-induced GFRAL signaling controls diurnal food intake and anxiety-like behavior

  2022cites this paper