Combined oxidative phosphorylation deficiency type 5 (Q95528): Difference between revisions
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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. | |||
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 |
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| default for all languages | ID_373222828 |
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| 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. |
