Catalog

Isolated mitochondrial respiratory chain complex II deficiency

No MMS code

Link to WHO Definition

Isolated mitochondrial respiratory chain complex II deficiency – http://id.who.int/icd/entity/369066691

This refers to isolated coupled electron transfer between an electron donor (such as NADH) and an electron acceptor (such as O2) with the transfer of H+ ions (protons) across a membrane. This diagnosis is with deficiency in Complex II, consisting of four protein subunits: SDHA, SDHB, SDHC, and SDHD. Other electron donors (e.g., fatty acids an glycerol 3-phosphate) also direct electrons into Q (via FAD).