Mitochondrial Diseases
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Citation: Orphanet Journal of Rare Diseases 2022 17:12
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Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
Leigh syndrome (LS) is a progressive neurodegenerative disorder associated with primary or secondary dysfunction of mitochondrial oxidative phosphorylation and is the most common mitochondrial disease in child...
Citation: Orphanet Journal of Rare Diseases 2021 16:413 -
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondr...
Citation: Orphanet Journal of Rare Diseases 2021 16:407 -
Self-regulation in Barth syndrome: a qualitative perspective of adolescents, adults and parents in the U.K
Barth syndrome (BS) is a life-threatening genetic disease caused by abnormal lipids in the mitochondria of cells and mostly affects young males. Those living with BS have severe exercise intolerance, lethargy ...
Citation: Orphanet Journal of Rare Diseases 2021 16:404 -
The long and winding road: perspectives of people and parents of children with mitochondrial conditions negotiating management after diagnosis
The diagnostic odyssey for people with a rare disease is well known, but difficulties do not stop at diagnosis. Here we investigate the experience of people, or parents of children with a diagnosed mitochondri...
Citation: Orphanet Journal of Rare Diseases 2021 16:310 -
Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults
Barth Syndrome (BTHS) is a rare genetic disorder that presents as a complex of debilitating symptoms and reduced life expectancy. Well-developed, BTHS-specific assessments measuring primary signs and symptoms ...
Citation: Orphanet Journal of Rare Diseases 2021 16:264 -
Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient
Ethylmalonic encephalopathy (EE) is a severe intoxication-type metabolic disorder with multisystem clinical features and leading to early death. In 2014, based on the promising results obtained by liver-target...
Citation: Orphanet Journal of Rare Diseases 2021 16:229 -
Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study
Leber’s hereditary optic neuropathy (LHON) is a rare mitochondrial disorder, characterized by acute or subacute bilateral vision loss, frequently leading to significant chronic disability, mainly in young peop...
Citation: Orphanet Journal of Rare Diseases 2021 16:127 -
Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders
Primary mitochondrial disorders (PMD) are rare conditions resulting in progressive multi-organ failure. Cardiovascular involvement (CVI) has been reported in paediatric patients. However, its age-related preva...
Citation: Orphanet Journal of Rare Diseases 2020 15:196 -
Clinical and molecular basis of hepatocerebral mitochondrial DNA depletion syndrome in Japan: evaluation of outcomes after liver transplantation
Hepatocerebral mitochondrial DNA depletion syndrome (MTDPS) is a disease caused by defects in mitochondrial DNA maintenance and leads to liver failure and neurological complications during infancy. Liver trans...
Citation: Orphanet Journal of Rare Diseases 2020 15:169 -
Psychological functioning in children suspected for mitochondrial disease: the need for care
Mitochondrial diseases (MD) are generally serious and progressive, inherited metabolic diseases. There is a high comorbidity of anxiety and depression and limitations in daily functioning. The complexity and d...
Citation: Orphanet Journal of Rare Diseases 2020 15:76 -
Molecular basis of Leigh syndrome: a current look
Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in mitochondrial energy production that usually starts in early childhood. The first description given by Leigh pointed out neu...
Citation: Orphanet Journal of Rare Diseases 2020 15:31 -
Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study
Barth syndrome (BTHS, OMIM 302060) is a rare, life-threatening, x-linked genetic disorder that occurs almost exclusively in males and is characterized by cardiomyopathy, neutropenia, skeletal muscle myopathy p...
Citation: Orphanet Journal of Rare Diseases 2019 14:243 -
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls
Complex I (CI or NADH:ubiquinone oxidoreductase) deficiency is the most frequent cause of mitochondrial respiratory chain defect. Successful attempts to rescue CI function by introducing an exogenous NADH dehy...
Citation: Orphanet Journal of Rare Diseases 2019 14:236 -
Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation
The vision loss in Leber hereditary optic neuropathy patients is due to mitochondrial DNA mutations. No treatment has shown a clear-cut benefit on a clinically meaningful end-point. However, clinical evidences...
Citation: Orphanet Journal of Rare Diseases 2019 14:150 -
Late-onset thymidine kinase 2 deficiency: a review of 18 cases
TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the ‘myopathic form’ of...
Citation: Orphanet Journal of Rare Diseases 2019 14:100 -
A retrospective analysis of health care utilization for patients with mitochondrial disease in the United States: 2008–2015
Mitochondrial disease (MD) is a heterogeneous group of disorders characterized by impaired energy production caused by abnormal oxidative phosphorylation. Diagnosis of MD is challenging given the variability i...
Citation: Orphanet Journal of Rare Diseases 2018 13:210 -
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individua...
Citation: Orphanet Journal of Rare Diseases 2018 13:120 -
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency
The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, sever...
Citation: Orphanet Journal of Rare Diseases 2018 13:80 -
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature
KARS encodes lysyl- transfer ribonucleic acid (tRNA) synthetase, which catalyzes the aminoacylation of tRNA-Lys in the cytoplasm and mitochondria. Eleven families/sporadic patients and 16 different mutations in K...
Citation: Orphanet Journal of Rare Diseases 2018 13:45 -
Hearing impairment in MELAS: new prospective in clinical use of microRNA, a systematic review
To evaluate the feasibility of microRNAs (miR) in clinical use to fill in the gap of current methodology commonly used to test hearing impairment in MELAS patients.
Citation: Orphanet Journal of Rare Diseases 2018 13:35 -
Quantification of gait in mitochondrial m.3243A > G patients: a validation study
More than half of the patients harbouring the m.3243A > G mutation were found to have trouble maintaining balance when walking in a recent study by our group. Others demonstrated that these patients had an abn...
Citation: Orphanet Journal of Rare Diseases 2017 12:91 -
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations
Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been des...
Citation: Orphanet Journal of Rare Diseases 2017 12:89 -
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
Mitochondrial diseases due to defective respiratory chain complex III (CIII) are relatively uncommon. The assembly of the eleven-subunit CIII is completed by the insertion of the Rieske iron-sulfur protein, a ...
Citation: Orphanet Journal of Rare Diseases 2017 12:73 -
A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement
The group of ELAC2-related encephalomyopathies is a recent addition to the rapidly growing heterogeneous mitochondrial disorders.
Citation: Orphanet Journal of Rare Diseases 2016 11:139 -
Altered skeletal muscle (mitochondrial) properties in patients with mitochondrial DNA single deletion myopathy
Mitochondrial myopathy severely affects skeletal muscle structure and function resulting in defective oxidative phosphorylation. However, the major pathomechanisms and therewith effective treatment approaches ...
Citation: Orphanet Journal of Rare Diseases 2016 11:105 -
Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation
Mitochondrial disorders belong to the most prevalent inherited metabolic diseases with the m.3243A > G mutation reflecting being one of the most common mutations in mitochondrial DNA. Previous studies showed l...
Citation: Orphanet Journal of Rare Diseases 2016 11:25