Preferred Label : Succinic acidaemia;
ICD-11 definition : Succinic acidemia has been described in two female sibs (the first sib died shortly
after birth and the other was diagnosed at the fetal stage). The first sib also had
lactic acidosis and respiratory distress. This is presumably an autosomal recessive
disorder. NADH-cytochrome C reductase activity was significantly low in both cases
and NADH-ferricyanide reductase activity was also low in the fetal case, suggesting
a complex I deficiency of the electron transport system in the mitochondrial membrane.;
Origin ID : 1257937011;
UMLS CUI : C1838243;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Succinic acidemia has been described in two female sibs (the first sib died shortly
after birth and the other was diagnosed at the fetal stage). The first sib also had
lactic acidosis and respiratory distress. This is presumably an autosomal recessive
disorder. NADH-cytochrome C reductase activity was significantly low in both cases
and NADH-ferricyanide reductase activity was also low in the fetal case, suggesting
a complex I deficiency of the electron transport system in the mitochondrial membrane.
