What does "inherited metabolic disease" mean?
Disease description:
My friend's child was diagnosed with a genetic metabolic disorder just a few months after birth. I have never heard of this disease before. Could you please explain what this disease is?
Doctor's answer (1)
Dr. Zhou Xiaofeng
Inherited metabolic diseases refer to a type of single-gene inherited disorder that can cause metabolic abnormalities in newborns, hence they are called inherited metabolic disorders.
Inherited metabolic disorders are single-gene diseases, possibly caused by fewer genes; mutations occur in protein-coding genes, other environmental factors, or de novo metabolic gene mutations, which affect the expression of key proteins responsible for their function, such as receptor deficiencies or enzyme deficiencies, leading to disease in affected children.
There are many specific inherited metabolic diseases, with over a thousand similar disorders identified so far. If a child has one of these conditions, after birth, he or she may develop severe metabolic disturbances, such as severe metabolic acidosis, hyperammonemia, glycogen storage disease, phenylketonuria, disorders of fat or carbohydrate metabolism, or severe hypoglycemic symptoms.
Patients are advised to be hospitalized promptly for examination. Diagnosis is generally made through gas chromatography-mass spectrometry, tandem mass spectrometry, or genetic testing. After diagnosis, treatment should follow medical advice.
