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multiple mitochondrial dysfunctions syndrome 3

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene.
Uniprot Description A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes.
Mondo Term and Equivalent IDs
MONDO:0014132:  multiple mitochondrial dysfunctions syndrome 3
Orphanet:363424: 
UMLS:C3809165: