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Condition: Mitochondrial Disease
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Total 21 results found since Jan 2013.

Case report: Mitochondrial trifunctional protein deficiency caused by HADHB gene mutation (c.1175C > T) characterized by higher brain dysfunction followed by neuropathy, presented gadolinium enhancement on brain imaging in an adult patient
Mitochondrial trifunctional protein (MTP) deficiency is an autosomal recessive disorder caused by impaired metabolism of long-chain fatty acids (LCFAs). Childhood and late-onset MTP deficiency is characterized by myopathy/rhabdomyolysis and peripheral neuropathy; however, the features are unclear. A 44-year-old woman was clinically diagnosed with Charcot-Marie-Tooth disease at 3 years of age due to gait disturbance. Her activity and voluntary speech gradually decreased in her 40s. Cognitive function was evaluated and brain imaging tests were performed. The Mini-Mental State Examination and frontal assessment battery scores...
Source: Frontiers in Neurology - June 13, 2023 Category: Neurology Source Type: research

Mitochondrial Myopathy in a 21-Year-Old Man Presenting With Bilateral Lower Extremity Weakness and Swelling
We report a case of a 21-year-old student who developed bilateral lower limb weakness, pain, and swelling diagnosed with mitochondrial myopathy on muscle biopsy. Initial laboratory tests revealed elevated creatinine kinase, brain natriuretic peptide, troponin, myoglobin, and lactic acid and reduced serum bicarbonate. Cardiac workup revealed systolic heart failure with a reduced ejection fraction. Endomyocardial biopsy revealed punctate foci of lymphocytic myocarditis. However, cardiac magnetic resonance imaging did not reveal either myocarditis or an infiltrative cardiac disease. An extensive autoimmune and infection work-...
Source: Primary Care - May 10, 2023 Category: Primary Care Authors: Kavya Bharathidasan Abbie Evans Fabiana Monte Alegre Olmos Fernandez Arunee Tansrisook Motes Kenneth Nugent Source Type: research

independent origin for M.3243A & gt;G mitochondrial mutation in three venezuelan cases of melas syndrome
Clin Biochem. 2022 Sep 18:S0009-9120(22)00221-1. doi: 10.1016/j.clinbiochem.2022.09.007. Online ahead of print.ABSTRACTMitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a multisystem and progressive neurodegenerative mitochondrial disease, caused by point nucleotide changes in the mtDNA where 80% of cases have the mutation m.3243A>G in the MT-TL1 gene. In this work, we described the clinical, biochemical and molecular analysis of three Venezuelan patients affected with MELAS syndrome. All cases showed lactic acidosis, cortical cerebral atrophy on magnetic resonance imaging and ...
Source: Clinical Biochemistry - September 21, 2022 Category: Biochemistry Authors: Ingrid Florez Irune Pirrone Liliana Casique Carmen Luisa Dom ínguez Antonieta Mahfoud Tania Rodr íguez Daniel Rodr íguez Marisel De Lucca Jos é Luis Ramírez Source Type: research

MRI Features of Stroke-Like Episodes in Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes
Mitochondrial myopathy encephalopathy lactic acidosis and stroke-like episodes (MELAS) is an important cause of stroke-mimicking diseases that predominantly affect patients before 40 years of age. MELAS results from gene mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) responsible for the wide spectrum of clinical symptoms and imaging findings. Neurological manifestations can present with stroke-like episodes (the cardinal features of MELAS), epilepsy, cognitive and mental disorders, or recurrent headaches. Magnetic resonance imaging (MRI) is an important tool for detecting stroke-like lesions, accurate ...
Source: Frontiers in Neurology - February 9, 2022 Category: Neurology Source Type: research

Case Report: Mitochondrial Encephalomyopathy Presents as Epilepsy, Ataxia, and Dystonia With a Rare Mutation in MT-TW
Mitochondrial diseases are a group of common inherited disorders caused by mutations in nuclear DNA or mitochondrial DNA (mtDNA); the clinical phenotype of diseases caused by mutant mtDNA is challenging owing to heteroplasmy of mtDNA and may delay diagnosis and treatment. Herein, we report the case of an adult male who slowly developed epilepsy, ataxia, dystonia, impaired cognition, and hearing impairment over 14 years in the absence of clinical myopathy. His lactate level was normal. Brain computed tomography showed calcifications of the bilateral basal ganglia, thalamus, and cerebellar dentate nuclei. Magnetic resonance ...
Source: Frontiers in Neurology - July 1, 2021 Category: Neurology Source Type: research

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Authors: Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR Abstract Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders primarily affecting the white matter of central nervous system. These conditions are often under-appreciated among physicians. The first clinical manifestations of leukodystrophies are often nonspecific and can occur in different ages from neonatal to late adulthood periods. The diagnosis is, therefore, challenging in most cases.Area covered: Herein, the authors discuss different aspects of leukodystrophies. The authors used...
Source: Expert Review of Neurotherapeutics - December 13, 2019 Category: Neurology Tags: Expert Rev Neurother Source Type: research

Dynamic derangement in amino acid profile during and after a stroke-like episode in adult-onset mitochondrial disease: a case report
ConclusionsGrowth differentiation factor-15 can be used not only for the diagnosis of mitochondrial disease, but as an indicator of its acute exacerbation. A stroke-like episode of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes reflects a drastic derangement of multiple amino acids. The involvement of aspartic acid in the episodes should be explored in future studies.
Source: Journal of Medical Case Reports - October 20, 2019 Category: General Medicine Source Type: research

Neuromuscular and Muscle Metabolic Functions in MELAS Before and After Resistance Training: A Case Study
Conclusion To conclude, this study suggests a preserved plasticity in the skeletal muscle of a patient with MELAS. More importantly, Resistance Training appears to be a safe and effective method to increase skeletal muscle function in this patient population, and this effect is mediated by both neuromuscular and mitochondrial adaptations. However, particular attention and caution is needed in the interpretation of the data of this single case study and further studies are warranted including larger sample of patients. Ethics Statement For this case study the participant caregiver provided written informed consent. Auth...
Source: Frontiers in Physiology - April 25, 2019 Category: Physiology Source Type: research

A Chinese Family With Adult-Onset Leigh-Like Syndrome Caused by the Heteroplasmic m.10191T > C Mutation in the Mitochondrial MTND3 Gene
Conclusion The m.10191T>C mutation in the mtDNA of the complex I (CI) subunit of MTND3 results in the substitution of a highly conserved amino acid (p.Ser45Pro) within the ND3 protein, leading to CI dysfunction through impaired enzyme catalysis rather than impaired stability or assembly, causing a broad clinical spectrum of disorders (26). Patients with the m.10191T>C mutation are rare. In the present study, we report on a family of patients with the extremely rare adult-onset Leigh-like syndrome with the m.10191T>C mutation. Including the two patients from our reported family, the m.10191T...
Source: Frontiers in Neurology - April 17, 2019 Category: Neurology Source Type: research

Case study of an inborn error manifested in the elderly: A woman with adult ‐onset mitochondrial disease mimicking systemic vasculitis
We report a case of mitochondrial disease in an elderly woman complaining of generalized myalgia. A 69 ‐year‐old woman was admitted due to fatigue, general weakness, and a drowsy mental status. A brain magnetic resonance imaging (MRI) demonstrated multifocal lesions of increased T2 signal intensity, and laboratory findings were consistent with Fanconi syndrome. During her hospital course, she dev eloped seizures, stress‐induced cardiomyopathy, and respiratory failure. A muscle biopsy demonstrated ragged‐red fibers in the muscle tissues seen in mitochondrial myopathy. We confirmed an 8 kb deletion in her mitochondr...
Source: International Journal of Rheumatic Diseases - April 9, 2019 Category: Rheumatology Authors: Jae Hyun Lee, Min Jung Kim, Sung ‐Hye Park, Jong‐Hee Chae, Kichul Shin Tags: APLAR GRAND ROUND CASE Source Type: research

Ophthalmoplegia in Mitochondrial Disease.
CONCLUSION: Patients with KSS had gastrointestinal symptoms, which may indicate another aspect of systemic involvement. The presence of large-scale mtDNA deletions was an objective diagnostic factor for KSS and a gene study may be helpful for evaluating patients with KSS. PMID: 30450853 [PubMed - in process]
Source: Yonsei Medical Journal - November 21, 2018 Category: Universities & Medical Training Authors: Lee SJ, Na JH, Han J, Lee YM Tags: Yonsei Med J Source Type: research