2024年9月9日 · Multiple mitochondrial dysfunctions syndrome-1 (MMDS1) is a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death (Seyda et al., 2001).

Multiple mitochondrial dysfunctions syndrome is a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death (summary by Seyda et al., 2001).

Since 2011, mutations in their genes leading to five multiple mitochondrial dysfunction syndromes (MMDS types 1 to 5) were reported. The aim of this systematic review is to describe all reported MMDS-patients. Their clinical, biological, and radiological data and associated genotype will be compared to each other.

2021年8月27日 · Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1) is a rare, autosomal recessive disorder caused by mutations in the NFU1 gene. NFU1 is responsible for delivery of iron-sulfur clusters (ISCs) to recipient proteins which require these metallic cofactors for …

多线粒体功能障碍综合症1，也称为mmds1，与多线粒体功能障碍综合症4和丙酮酸脱氢酶e1-α缺陷有关，症状包括嗜睡和虚弱。 与多线粒体功能障碍综合症1有关的重要基因是NFU1（NFU1铁硫簇支架），其相关通路/超级通路包括代谢和甘油酸代谢和甘氨酸降解。

Multiple mitochondrial dysfunctions syndrome-1 (MMDS1) is a severe autosomal recessive disorder characterized by systemic energy metabolism dysfunction, leading to weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death.

A rare mitochondrial disease characterized by failure to thrive, infantile encephalopathy, muscular hypotonia, global developmental delay and regression, pulmonary arterial hypertension, episodes of apnea and bradycardia, respiratory failure, hyperglycinemia, and lactic acidosis. Hypertrophic or dilated cardiomyopathy have also been reported.

Given the rarity of patients reported with MMDS1, we review the current state of knowledge of this disease and our novel management strategies for pHTN and MMDS1-associated complications in this population.

In the Multiple Mitochondrial Dysfunctions Syndrome 1 (MMDS1) disease state, the Fe-S cluster protein NFU1 demonstrates a moderately severe G189R mutation that appears to primarily impact protein structure and oligomeric state and impairs the majority of cluster delivery pathways.

2017年3月24日 · A point mutation (G208C) on human NFU1 results in a disease phenotype, MMDS1. The G208C mutation introduces a minor structural change that promotes dimerization. The dimerization impairs Fe/S cluster transfer capabilities.