Preferred Label : Isolated mitochondrial respiratory chain complex II deficiency;
ICD-11 definition : 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).;
ICD-11 synonym : Succinate-CoQ reductase deficiency; Succinate coenzyme Q reductase deficiency;
Origin ID : 369066691;
Automatic exact mappings (from CISMeF team)
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).