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mitochondrial complex III deficiency nuclear type 6

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene.
Uniprot Description An autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal.
Mondo Term and Equivalent IDs
MONDO:0014194:  mitochondrial complex III deficiency nuclear type 6
UMLS:C3809553: