Preferred Label : Isolated mitochondrial respiratory chain complex I 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 I when two electrons
are removed from NADH and transferred to a lipid-soluble carrier, ubiquinone (Q).;
ICD-11 synonym : NADH-CoQ - [Nicotinamide-adenine-dinucleotide coenzyme Q] reductase deficiency; NADH-CoQ reductase deficiency; Ubiquinone deficiency; Nicotinamide-adenine-dinucleotide coenzyme Q reductase deficiency;
Origin ID : 67580224;
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 I when two electrons
are removed from NADH and transferred to a lipid-soluble carrier, ubiquinone (Q).
