Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity.
Two siblings with succinic acidemia, a hitherto unreported organic acidemia, were investigated. Succinic acidemia, lactic acidosis and respiratory distress were observed in one of the siblings, who died 37 days after birth, and succinic acidemia was also detected in the next sibling at the fetal stage. 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.
Asano
K
K
Division of Clinical Biochemistry, Clinical Research Institute, Tokyo, Japan.
Miyamoto
I
I
Matsushita
T
T
Murakami
Y
Y
Minoura
S
S
Wagatsuma
T
T
Oshima
M
M
D000140:Acidosis, Lactic / Q000151:congenital* / Q000201:enzymology / Q000378:metabolism; D000653:Amniotic Fluid / Q000032:analysis; D003579:Cytochrome Reductases / Q000172:deficiency*; D004579:Electron Transport; D005260:Female; D005315:Fetal Diseases / Q000201:enzymology; D006801:Humans; D007231:Infant, Newborn; D008930:Mitochondria, Liver / Q000032:analysis; D009245:NADH Dehydrogenase / Q000172:deficiency*; D011247:Pregnancy; D013386:Succinates / Q000097:blood*; D019802:Succinic Acid
D013386:Succinates; D019802:Succinic Acid; D003579:Cytochrome Reductases; D009245:NADH Dehydrogenase