Succinic acidaemia (Q102307): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed label, description and/or aliases in pt-br, en |
Changed an Item |
||
| Property / Canonical URI | |||
| Property / Canonical URI: https://id.who.int/icd/entity/1257937011 / rank | |||
Normal rank | |||
Revision as of 19:14, 16 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1257937011 |
||
| English | Succinic acidaemia |
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. |
