Patient's question:
Patient Age: InfantMain Symptoms: Child Phe; Negative TSH; Negative
What does this mean?
Onset Time:
Test Results:
Doctor's answer:
TSH is an indicator for screening congenital hypothyroidism, also known as "cretinism." Phe is an indicator for screening phenylketonuria. G6PD deficiency, whose full name is "Glucose-6-Phosphate Dehydrogenase Deficiency," is a common congenital metabolic disease among Chinese people, with an incidence rate of 3% in Taiwan. This means that out of every 100 newborns, three cases are affected. Among these cases, the Hakkas have a higher incidence rate. Since it is an X-linked genetic disease, more male patients are present than female patients. Currently, G6PD deficiency is one of the government's screening programs for newborns. A negative result indicates that the child is healthy and has no issues, meaning your baby does not have congenital diseases such as hypothyroidism or phenylketonuria (genetic diseases).