Succinic acidaemia (Q102307): Difference between revisions
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A acidemia succínica foi descrita em duas irmãs (a primeira irmã morreu logo após o nascimento e a outra foi diagnosticado na fase fetal). A primeira irmã também teve acidose láctica e dificuldade respiratória. Este é provavelmente um transtorno autossômico recessivo. A atividade da NADH-citocromo C redutase foi significativamente baixa em ambos os casos e a atividade do NADH-ferricianeto redutase também foi baixa no caso fetal, sugerindo uma deficiência do complexo I do sistema de transporte de elétrons na membrana mitocondrial. | |||||||||||||||
| description / en | description / en | ||||||||||||||
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. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1257937011 / rank | |||||||||||||||
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CID11:ID_1257937011 | |||||||||||||||
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dki-india-ID_1257937011 | |||||||||||||||
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Concluído | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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15 August 2026
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| Property / Collection date: 15 August 2026 / rank | |||||||||||||||
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Latest 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 |
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| default for all languages | ID_1257937011 |
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| 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. |
Statements
CID11:ID_1257937011
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dki-india-ID_1257937011
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Concluído
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15 August 2026
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