What Are Congenital Anomalies?
Inborn error of metabolism is due to abnormal genotypes, which cause abnormalities in the quality or quantity of proteins (especially enzymes) in the primary production of genes, so the metabolic processes that were originally involved in these proteins also occur. abnormal.
Congenital metabolic abnormalities
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- Chinese name
- Congenital metabolic abnormalities
- Foreign name
- inborn error of metabolism
- Symptom
- Normal response is suppressed
- Classification
- Four
- Inborn error of metabolism is due to abnormal genotypes, which cause abnormalities in the quality or quantity of proteins (especially enzymes) in the primary production of genes, so the metabolic processes that were originally involved in these proteins also occur. abnormal.
- Representative congenital metabolic abnormalities show various harmful symptoms through the following mechanisms. (1) The normal response is suppressed, thereby causing deficiency or deficiency of necessary metabolites. (Such as systemic albinism, adrenal syndrome, goiter syndrome); (2) Metabolites accumulated in the previous stage of the suppressed response cause harmful effects (such as glycogen accumulation, phenylketonuria, Wilson (3) On the contrary, the response is promoted, resulting in overproduction of metabolites (such as acute intermittent hepatic porphyria).