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Hypoglycemia in mitochondrial disorders
Mitochondrion, 2021Diabetes and hyperglycemia are common features of mitochondrial disorders. This study investigates the frequency of non-iatrogenic hypoglycemia in individuals with these disorders. Of 116 patients, 22 (18.97%) experienced at least two episodes of hypoglycemia. This rate is significantly higher (p
Myla, Ashfaq +7 more
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Current Opinion in Neurology, 2001
The most relevant contribution to the elucidation of the molecular basis of mitochondrial disorders has come from the discovery of an impressive and ever expanding number of mutations of mitochondrial DNA. However, known mutations of mtDNA only account for a fraction of all the mitochondrial disorders in both infants and adults.
M, Zeviani, T, Klopstock
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The most relevant contribution to the elucidation of the molecular basis of mitochondrial disorders has come from the discovery of an impressive and ever expanding number of mutations of mitochondrial DNA. However, known mutations of mtDNA only account for a fraction of all the mitochondrial disorders in both infants and adults.
M, Zeviani, T, Klopstock
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Mitochondrial Disorders in Adults
Current Molecular Medicine, 2014Mitochondrial Disorders (MD) include a heterogeneous group of inherited disorders due to molecular defects mainly affecting the mitochondrial oxidative phosphorylation system. Because the respiratory chain is under control of two different genomes (nuclear DNA-nDNA and mitochondrial DNA-mtDNA), mitochondrial genetics is quite complex and may justify ...
TOSCANO, Antonio, MUSUMECI, Olimpia
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2013
Mitochondria, double-membrane organelles, are the major site of energy production and vital components of all eukaryotic cells because of the presence in their inner membrane of the respiratory chain (RC) which accomplishes oxidative phosphorylation (OXPHOS).
Di Donato, Stefano +2 more
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Mitochondria, double-membrane organelles, are the major site of energy production and vital components of all eukaryotic cells because of the presence in their inner membrane of the respiratory chain (RC) which accomplishes oxidative phosphorylation (OXPHOS).
Di Donato, Stefano +2 more
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Mitochondrial disorders and epilepsy
Revue Neurologique, 2014Mitochondrial respiratory chain defects (RCD) often exhibit multiorgan involvement, affecting mainly tissues with high-energy requirements such as the brain. Epilepsy is frequent during the evolution of mitochondrial disorders (30%) with different presentation in childhood and adulthood in term of type of epilepsy, of efficacy of treatment and also in ...
I, Desguerre +3 more
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Current Opinion in Neurology, 1996
Eight years after the first description of mitochondrial DNA mutations in neuromuscular syndromes, the relatively unknown field of mitochondrial disorders has become a major topic not only in neurology, but in various other fields of medicine. Dozens of mitochondrial DNA mutations have been associated with neuromuscular, ophthalmologic, endocrinologic,
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Eight years after the first description of mitochondrial DNA mutations in neuromuscular syndromes, the relatively unknown field of mitochondrial disorders has become a major topic not only in neurology, but in various other fields of medicine. Dozens of mitochondrial DNA mutations have been associated with neuromuscular, ophthalmologic, endocrinologic,
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Myoclonus in mitochondrial disorders
Movement Disorders, 2014ABSTRACTMyoclonus is a possible manifestation of mitochondrial disorders, and its presence is considered, in association with epilepsy and the ragged red fibers, pivotal for the syndromic diagnosis of MERRF (myoclonic epilepsy with ragged red fibers). However, its prevalence in mitochondrial diseases is not known.
Mancuso M +28 more
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Headache in mitochondrial disorders
Clinical Neurology and Neurosurgery, 2018Headache is a prominent feature in mitochondrial disorders (MIDs) but no comprehensive overview is currently available. This review aims at summarising and discussing findings concerning type, frequency, pathogenesis, and treatment of headache in MIDs. The most frequent headache types in MIDs are migraine and migraine-like headache (MLH).
Josef, Finsterer, Sinda, Zarrouk-Mahjoub
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Therapy of mitochondrial disorders
Journal of Inherited Metabolic Disease, 1987AbstractMitochondrial disorders, namely defects of fatty acid oxidation, defects of pyruvate metabolism and defects of the respiratory chain are heterogenous in clinical picture and in response to therapeutic attempts. Defects of fatty acid metabolism are amenable to therapy by dietary means, carnitine substitution and in some cases with vitamins ...
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Mitochondrial disorders and the eye
Survey of Ophthalmology, 2020Mitochondria are cellular organelles that play a key role in energy metabolism and oxidative phosphorylation. Malfunctioning of mitochondria has been implicated as the cause of many disorders with variable inheritance, heterogeneity of systems involved, and varied phenotype.
Eli Kisilevsky +2 more
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