Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant [PDF]
Frontiers in Pediatrics, 2022 Backgroundβ-Ureidopropionase deficiency is a rare autosomal recessive disease affecting the last step of pyrimidine degradation. Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare inherited disorder ...
Jianbo Shu +19 more
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Late-onset MELAS syndrome with mtDNA 14453G→A mutation masquerading as an acute encephalitis: a case report [PDF]
BMC Neurology, 2020 Background A unique patient with MELAS syndrome, who initially masqueraded as having acute encephalitis and was eventually diagnosed with MELAS syndrome harboring a mtDNA 14453G → A mutation, is described. Case presentation A 74-year-old Japanese man was
Yuki Yokota +7 more
doaj +3 more sources
Unraveling an Unusual Phenocopy of Hypertrophic Cardiomyopathy: MELAS Syndrome [PDF]
Diagnostics, 2021 The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is an uncommon cause of cardiac hypertrophy, fibrosis, and dysfunction.
Anna B. Reid +3 more
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Temporal bone histopathology in MELAS syndrome [PDF]
Laryngoscope Investigative Otolaryngology, 2020 Objectives Describe the histopathology of the temporal bones in MELAS (myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes) syndrome. The syndrome results from a known point mutation in mitochondrial DNA.
Ophir Handzel +3 more
doaj +5 more sources
Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report. [PDF]
Eur Heart J Case Rep, 2023 Background Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a multi-organ disorder resulting from mitochondrial DNA (mtDNA) mutations.
Lee SH, Lee CJ.
europepmc +4 more sources
A patient with MELAS syndrome combined with autoimmune abnormalities: a case report. [PDF]
Front Neurol, 2023 Background Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) is a group of maternally inherited disorders caused by mutations or deletions in mitochondrial genes with mitochondrial encephalomyopathy, lactic acidosis ...
Zhao M +5 more
europepmc +2 more sources
Late-onset MELAS syndrome in a 46-year-old man with initial symptom of chest tightness: a case report. [PDF]
Eur Heart J Case Rep, 2023 Background Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) syndrome is a rare mitochondrial disorder caused by mutations in mitochondrial DNA, resulting in impaired energy production and affecting multiple organs.
Wang A, Zhao J, Zhao Y, Yan Y.
europepmc +2 more sources
Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome. [PDF]
J Neurol, 2022 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a genetically heterogeneous disorder caused by mitochondrial DNA (mtDNA) mutations in the MT-TL1 gene.
Guerrero-Molina MP +9 more
europepmc +2 more sources
Arginine Supplementation in MELAS Syndrome: What Do We Know about the Mechanisms? [PDF]
Int J Mol SciMELAS syndrome, characterized by mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, represents a devastating mitochondrial disease, with the stroke-like episodes being its primary manifestation. Arginine supplementation has
Barros CDS, Coutinho A, Tengan CH.
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Hypoparathyroidism in a Child with MELAS Syndrome: A Case Report of Severe Lactic Acidosis and Symmetrical Bilateral Basal Ganglia Calcification. [PDF]
Int J Endocrinol MetabIntroduction MELAS syndrome is a mitochondrial disorder typically characterized by brain dysfunction and endocrinopathies, but it rarely presents with hypoparathyroidism (HP).
Wang L, Zhou T, Bu X, Pan D, Liu X.
europepmc +2 more sources