Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency (Q104283): Difference between revisions

@@ description / pt-br / description / pt-br @@
+Refere-se à deficiência de uma enzima que catalisa a isomerização de metilmalonil-CoA em succinil-CoA e está envolvida nas principais vias metabólicas. Ela requer um grupo protético derivado da vitamina B12, adenosilcobalamina, para funcionar. Este diagnóstico é com deficiência de sepiapterina redutase.
@@ description / en / description / en @@
+This refers to deficiency of an enzyme that catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA and it is involved in key metabolic pathways. It requires a vitamin B12-derived prosthetic group, adenosylcobalamin, to function. This diagnosis is with sepiapterin reductase deficiency.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/1464831299
@@ Property / Canonical URI: https://id.who.int/icd/entity/1464831299 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:ID_1464831299
@@ Property / CURIE: CID11:ID_1464831299 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_1464831299
@@ Property / Canary Token: dki-india-ID_1464831299 / 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 +2026-08-16T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-16T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 16 August 2026 / rank @@
+Normal rank

Latest revision as of 10:08, 17 August 2026

This refers to deficiency of an enzyme that catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA and it is involved in key metabolic pathways. It requires a vitamin B12-derived prosthetic group, adenosylcobalamin, to function. This diagnosis is with sepiapterin reductase deficiency.

Language	Label	Description	Also known as
default for all languages	ID_1464831299
English	Methylmalonyl-CoA epimerase deficiency with sepiapterin reductase deficiency	This refers to deficiency of an enzyme that catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA and it is involved in key metabolic pathways. It requires a vitamin B12-derived prosthetic group, adenosylcobalamin, to function. This diagnosis is with sepiapterin reductase deficiency.