Arginine and Citrulline for the Treatment of MELAS Syndrome

El‐Hattab, Ayman W.; Almannai, Mohammed; Scaglia, Fernando

doi:10.1177/2326409817697399

Cited by 46 publications

(30 citation statements)

References 39 publications

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“…For MELAS, arginine and citrulline can provide some symptomatic relief. The patient reported herein was treated with these supplements . Both arginine and citrulline act as nitrous oxide precursors.…”

Section: Discussionmentioning

confidence: 99%

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Temporal bone histopathology in MELAS syndrome

Handzel

Ungar

Lee

et al. 2020

Laryngoscope Investig Oto

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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. Methods Histopathology analysis of a pair of temporal bones from the oldest surviving MELAS syndrome temporal bone donor. Histopathologic findings were correlated with known premortem clinical data. Results The inner ears showed severe but incomplete atrophy of the stria vascularis for the length of the cochleae. In contrast, the organ of Corti and inner hair cells appeared intact with some loss of outer hair cells. Other than moderate loss at the basal turn, spiral ganglion cells numbers were normal. The vestibular neuroepithelium was mostly normal with the exception of moderate degeneration of the macula sacculi and partial collapse of the saccular wall on the right. The cerebral cortex had infarct‐like lesions with adjacent gliosis. Conclusion This is an analysis of the oldest patient with MELAS syndrome to date, an addition to only two previously published patients. It supports the notion that hearing loss is a result of dysfunction of the stria vascularis and not loss of hair cells or neurons. Patterns of vestibular pathology are in agreement to in‐vivo measurements. These findings support auditory rehabilitation with cochlear implants and may be relevant to hearing loss due to other mitochondrial mutations. Level of evidence 4

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Section: Discussionmentioning

confidence: 99%

“…The patient reported herein was treated with these supplements. 12 Both arginine and citrulline act as nitrous oxide precursors. Their administration can result in increased nitrous oxide availability and may lessen the stroke-like episodes typical of MELAS implantation can be effective.…”

Section: Discussionmentioning

confidence: 99%

Temporal bone histopathology in MELAS syndrome

Handzel

Ungar

Lee

et al. 2020

Laryngoscope Investig Oto

View full text Add to dashboard Cite

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“…The amino acids arginine and citrulline can restore NO production and therefore could treat NO deficiency-related manifestations of mitochondrial diseases. 4,8 When NO production in individuals with mitochondrial diseases is enhanced with arginine or citrulline supplementation, endothelial dysfunction might improve because of increased vascular endothelium ability to produce NO. To investigate this theory, we needed to assess endothelial dysfunction before and after arginine or citrulline supplementation.…”

Section: Journal Of Central Nervous System Diseasementioning

confidence: 99%

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases

Jasmi

Zaabi

Al‐Thihli

et al. 2020

J Cent Nerv Syst Dis

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Background: In addition to the reduced energy production, characteristic of mitochondrial disorders, nitric oxide (NO) deficiency can occur as well. The NO produced by vascular endothelial cells relaxes vascular smooth muscles, resulting in vasodilation that maintains the patency of small blood vessels and promotes blood flow through microvasculature. Endothelial dysfunction due to inability of vascular endothelium to generate enough NO to maintain adequate vasodilation can result in decreased perfusion in the microvasculature of various tissues, contributing to many complications seen in individuals with mitochondrial diseases. The amino acids arginine and citrulline are NO precursors: increasing their concentrations could potentially restore NO production. Methods: In this study, we assessed endothelial dysfunction in children and adolescents with mitochondrial diseases. We also investigated the effect of arginine and citrulline supplementation on endothelial dysfunction in these individuals. We used peripheral arterial tonometry to measure the reactive hyperemic index (RHI), which is low when there is endothelial dysfunction. Results: The results demonstrated low RHI in individuals with mitochondrial diseases, indicating endothelial dysfunction. RHI increased with arginine or citrulline supplementation suggesting that supplementation with NO precursors can improve endothelial dysfunction by enhancing NO production. Conclusions: This study is the first one to use peripheral arterial tonometry methodology in mitochondrial diseases. The results of this study provide evidence for endothelial dysfunction in mitochondrial diseases and demonstrate that arginine or citrulline supplementation can alleviate the endothelial dysfunction, providing more evidence for the potential therapeutic utility of these amino acids in mitochondrial diseases.

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“…Прием ар-гинина (150-300 мг/кг в сутки) положительно влияет на клиническую симптоматику: ведет к нивелирова-нию мышечной слабости, лактат-ацидоза, снижению частоты и тяжести инсультов. Внутривенное введение препарата в остром периоде инсульта или при разви-тии эпилептического статуса значительно улучшает прогноз [18][19][20].…”

Section: энерготропная терапия митохондриальных болезнейunclassified

Modern Possibilities of Hereditary Diseases Treatment in Children

Николаева¹,

Семячкина²

2018

Ross. vestn. perinatol. pediatr.

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In recent decades, the progressive development of medical genetics has led to significant advances in the diagnosis and therapy of hereditary pathology. As a result, the attitude of clinicians to hereditary diseases as to fatal and incurable, is gradually changing. Early dietary therapy of phenylketonuria and a number of other diseases provides full medical and social habilitation of children. Cofactor therapy, including a special vitamin therapy, is crucial in the treatment of enzymopathiessuch as: lack of biotinidase, homocystinuria, etc. Levocarnitine therapy shows high efficiency in a number of organic acidemias. A breakthrough in the treatment of lysosomal diseases should be considered the development of enzyme-substituting and substrate-reducing drugs. Further improvement of the effectiveness of hereditary diseases treatment seems to be associated with the introduction of gene therapy methods.

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Arginine and Citrulline for the Treatment of MELAS Syndrome

Cited by 46 publications

References 39 publications

Temporal bone histopathology in MELAS syndrome

Temporal bone histopathology in MELAS syndrome

Endothelial Dysfunction and the Effect of Arginine and Citrulline Supplementation in Children and Adolescents With Mitochondrial Diseases

Modern Possibilities of Hereditary Diseases Treatment in Children

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