Diagnosis
With the development of medicine, it is now possible to detect many of these diseases through a newborn screening program for metabolic diseases, using a tandem mass spectrometer (TANDEM) (MS), and using filter paper. Diagnosis can also be made through genetic screening for some of these diseases, but this is only available in a number of cases. Few international medical centers.

Treatment
Early detection and the development of methods for treating these diseases have enabled many people with these diseases to live normal or close to normal lives, and as long as parents are careful to follow medical instructions, especially those related to food, the future of these children bodes well. Most of those who were treated properly, whether children or adults, were able, God willing, to enjoy sound physical and mental health. There are also a few metabolic diseases that did not respond to treatment, even if early treatment was provided. They can be treated in different ways, which depend on the nature of the accumulated substance and can be summarized as follows. Diet, drug therapy, enzyme replacement, bone marrow transplant or liver transplant.