Catalog

Mitochondrial respiratory chain complex II assembly gene defect

No MMS code

Link to WHO Definition

Mitochondrial respiratory chain complex II assembly gene defect – http://id.who.int/icd/entity/728040311

In complex II additional electrons are delivered into the quinone pool (Q) originating from succinate and transferred (via FAD) to Q. Complex II consists of four protein subunits: SDHA, SDHB, SDHC, and SDHD. This diagnosis is with assembly gene defect.