Congenital adrenal hyperplasia due to side-chain cleavage enzyme deficiency (Q89847): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Refere-se a qualquer uma das várias doenças autossômicas recessivas resultantes de mutações de genes para enzimas que medeiam as etapas bioquímicas de produção de cortisol a partir do colesterol pelas glândulas suprarrenais (esteroidogênese). Este diagnóstico é devido à deficiência de enzima de clivagem de cadeia lateral. | |||
| description / en | description / en | ||
This refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). This diagnosis is due to side-chain cleavage enzyme deficiency. | |||
Revision as of 16:42, 15 August 2026
This refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). This diagnosis is due to side-chain cleavage enzyme deficiency.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_2147137083 |
||
| English | Congenital adrenal hyperplasia due to side-chain cleavage enzyme deficiency |
This refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). This diagnosis is due to side-chain cleavage enzyme deficiency. |
