WARS2-related combined oxidative phosphorylation defect
Synonyms: Mitochondrial tryptophanyl-tRNA synthetase deficiency
A rare mitochondrial oxidative phosphorylation disorder characterized by a spectrum of three main clinical phenotypes comprising a severe neonatal phenotype with early fatal lactic acidosis a more protracted course with early-onset developmental delay motor weakness extrapyramidal signs and with or without epilepsy and a phenotype with normal early development and Parkinson-like symptoms starting around the age of one year. Additional variably reported signs and symptoms include cardiomyopathy optic anomalies hepatosplenomegaly and abnormal brain MRI findings among others. Deficiencies in mitochondrial oxidative phosphorylation enzymes are inconsistent.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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WARS2-related combined oxidative phosphorylation defect?
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Cure Mito Foundation
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United Mitochondrial Disease Foundation (UMDF)
Promoting research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families. We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. We are committed and energized to make a difference by funding the best science in the world.
MitoCanada's mission is to create a world where all lives are powered by healthy mitochondria. We are dedicated to supporting Canadians living with mitochondrial disease by developing education and awareness programs, advocating to improve the health and quality of life of those living with mito at provincial and federal levels, and we fund research that is patient-focused and transformational.
MitoAction’s mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease.
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Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
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