mitochondrial complex III deficiency nuclear type 6

Term ID

DOID:0080115

Synonyms

Definition

A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24. http://omim.org/entry/615453?search=615453&highlight=615453

References

• MIM:615453

Ontology

Human Disease   ( DOID:0080115 )