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hereditary myopathy with lactic acidosis due to ISCU deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Aconitase deficiency is characterised by myopathy with severe exercise intolerance and deficiencies of skeletal muscle succinate dehydrogenase and aconitase.
Uniprot Description Autosomal recessive metabolic disease characterized by lifelong severe exercise intolerance, in which minor exertion causes fatigue of active muscles, shortness of breath, and cardiac palpitations in association with lactic acidosis. The biochemical phenotype is characterized by a deficiency in mitochondrial iron-sulfur proteins and impaired muscle oxidative metabolism.
Mondo Term and Equivalent IDs
MONDO:0009706:  hereditary myopathy with lactic acidosis due to ISCU deficiency
MESH:C564972: 
Orphanet:43115: 
SCTID:699268002: 
UMLS:C1850718: