Isovaleric aciduria (Q86118): Difference between revisions

@@ description / pt-br / description / pt-br @@
+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.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/1817788413
@@ Property / Canonical URI: https://id.who.int/icd/entity/1817788413 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:ID_1817788413
@@ Property / CURIE: CID11:ID_1817788413 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_1817788413
@@ Property / Canary Token: dki-india-ID_1817788413 / rank @@
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@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
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@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank

Latest revision as of 11:29, 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
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.