Combined oxidative phosphorylation deficiency type 5 (Q95528): Difference between revisions

@@ description / pt-br / description / pt-br @@
+A deficiência combinada de fosforilação oxidativa tipo 5 é caracterizada por hipotonia severa, academia láctica e hiperamonemia congênita. Foi descrito em três recém-nascidos de pais consanguíneos. O exame de ultrassom durante a 36ª semana de gravidez revelou edema generalizado. A cardiomiopatia hipertrófica e a tubulopatia desenvolveram-se na primeira semana de vida e os bebês morreram no primeiro mês. As atividades das enzimas da cadeia respiratória mitocondrial foram reduzidas na musculatura dos pacientes. Mutações foram identificadas no gene MRPS22, que codifica uma proteína ribossômica mitocondrial.
@@ description / en / description / en @@
+Combined oxidative phosphorylation deficiency type 5 is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia. It has been described in three newborns born to consanguineous parents. Ultrasound examination during the 36th week of pregnancy revealed generalised oedema. Hypertrophic cardiomyopathy and tubulopathy developed within the first week of life and the infants died within the first month. The activities of enzymes in the mitochondrial respiratory chain were reduced in the muscles of the patients. Mutations were identified in the MRPS22 gene, encoding a mitochondrial ribosomal protein.
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+https://id.who.int/icd/entity/373222828
@@ Property / Canonical URI: https://id.who.int/icd/entity/373222828 / rank @@
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@@ Property / CURIE @@
+CID11:ID_373222828
@@ Property / CURIE: CID11:ID_373222828 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_373222828
@@ Property / Canary Token: dki-india-ID_373222828 / 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 +2026-08-15T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-15T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 15 August 2026 / rank @@
+Normal rank

Latest revision as of 11:19, 16 August 2026

Combined oxidative phosphorylation deficiency type 5 is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia. It has been described in three newborns born to consanguineous parents. Ultrasound examination during the 36th week of pregnancy revealed generalised oedema. Hypertrophic cardiomyopathy and tubulopathy developed within the first week of life and the infants died within the first month. The activities of enzymes in the mitochondrial respiratory chain were reduced in the muscles of the patients. Mutations were identified in the MRPS22 gene, encoding a mitochondrial ribosomal protein.

Language	Label	Description	Also known as
default for all languages	ID_373222828
English	Combined oxidative phosphorylation deficiency type 5	Combined oxidative phosphorylation deficiency type 5 is characterised by severe hypotonia, lactic academia and congenital hyperammonaemia. It has been described in three newborns born to consanguineous parents. Ultrasound examination during the 36th week of pregnancy revealed generalised oedema. Hypertrophic cardiomyopathy and tubulopathy developed within the first week of life and the infants died within the first month. The activities of enzymes in the mitochondrial respiratory chain were reduced in the muscles of the patients. Mutations were identified in the MRPS22 gene, encoding a mitochondrial ribosomal protein.