Isovaleric aciduria (Q86118): Difference between revisions
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A isovalericacidemia é causada por uma deficiência de isovaleril CoA desidrogenase que afeta o metabolismo da leucina. A doença é transmitida por herança autossômica recessiva. A prevalência estimada na população geral da Europa é de 1/100 000. Desde os primeiros dias de vida, os recém-nascidos podem apresentar vómitos, desidratação, coma e movimentos anormais. Os exames biológicos mostram acidose metabólica com cetose, hiperamonemia, neutropenia, trombopenia, hipocalcemia. O tratamento baseia-se na restrição moderada de proteínas na dieta e na administração oral de glicina e carnitina que garantem a depuração eficaz de isovaleril CoA. | |||
| description / en | description / en | ||
Isovalericacidaemia is caused by a deficit in isovaleryl CoA dehydrogenase which affects leucine metabolism. The disease is transmitted by autosomal recessive inheritance. The estimated prevalence in the general population of Europe is 1/100 000. As of the first days of life, newborns can present vomiting, dehydration, coma and abnormal movements. Biological examinations show metabolic acidosis with ketosis, hyperammonemia, neutropaenia, thrombopaenia, hypocalcaemia. Treatment is based on a moderate restriction of proteins in the diet and oral administration of glycine and carnitine which assure effective clearance of isovaleryl CoA. | |||
Revision as of 11:28, 15 August 2026
Isovalericacidaemia is caused by a deficit in isovaleryl CoA dehydrogenase which affects leucine metabolism. The disease is transmitted by autosomal recessive inheritance. The estimated prevalence in the general population of Europe is 1/100 000. As of the first days of life, newborns can present vomiting, dehydration, coma and abnormal movements. Biological examinations show metabolic acidosis with ketosis, hyperammonemia, neutropaenia, thrombopaenia, hypocalcaemia. Treatment is based on a moderate restriction of proteins in the diet and oral administration of glycine and carnitine which assure effective clearance of isovaleryl CoA.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1817788413 |
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| English | Isovaleric aciduria |
Isovalericacidaemia is caused by a deficit in isovaleryl CoA dehydrogenase which affects leucine metabolism. The disease is transmitted by autosomal recessive inheritance. The estimated prevalence in the general population of Europe is 1/100 000. As of the first days of life, newborns can present vomiting, dehydration, coma and abnormal movements. Biological examinations show metabolic acidosis with ketosis, hyperammonemia, neutropaenia, thrombopaenia, hypocalcaemia. Treatment is based on a moderate restriction of proteins in the diet and oral administration of glycine and carnitine which assure effective clearance of isovaleryl CoA. |
