Catalog

Mitochondrial respiratory chain complex II structural subunit gene defect

No MMS code

Link to WHO Definition

Mitochondrial respiratory chain complex II structural subunit gene defect – http://id.who.int/icd/entity/641102996

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 structural subunit gene defect.

Parents

Isolated oxidative phosphorylation defects with variable phenotype, not elsewhere classified