2-methylbutyric aciduria (Q86123): Difference between revisions

← Older edit

@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/1141171278
@@ Property / Canonical URI: https://id.who.int/icd/entity/1141171278 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:ID_1141171278
@@ Property / CURIE: CID11:ID_1141171278 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_1141171278
@@ Property / Canary Token: dki-india-ID_1141171278 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ 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

2-Methylbutyryl-CoA dehydrogenase (or Short/branched-chain acyl-coA dehydrogenase; SBCAD) deficiency is an organic aciduria characterised by increased urinary excretion of 2-methylbutyrylglycine, and increased whole blood and plasma concentrations of 2-methylbutyryl (C5) carnitine, associated from a variable phenotype ranging from asymptomatic patients to those with muscle hypotonia, cerebral palsy, developmental delay, lethargy, hypoglycaemia, and metabolic acidosis.

Language	Label	Description	Also known as
default for all languages	ID_1141171278
English	2-methylbutyric aciduria	2-Methylbutyryl-CoA dehydrogenase (or Short/branched-chain acyl-coA dehydrogenase; SBCAD) deficiency is an organic aciduria characterised by increased urinary excretion of 2-methylbutyrylglycine, and increased whole blood and plasma concentrations of 2-methylbutyryl (C5) carnitine, associated from a variable phenotype ranging from asymptomatic patients to those with muscle hypotonia, cerebral palsy, developmental delay, lethargy, hypoglycaemia, and metabolic acidosis.