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[in recent decades, the emergence of new screening technologies has promoted the expansion of newborn screening diseases. currently, 40 to 50 diseases can be detected through "one drop of blood". however, due to the different number of diseases included in newborn screening in different places, some children may miss the best time for intervention due to screening gaps, causing irreversible lifelong damage.]

ding ding first fell ill when he was two years old. that sudden acidosis damaged ding ding's brain center, making him unable to get out of bed and walk after two years of rehabilitation. before that, ding ding could sing and dance, just like a normal child.

"(he) was diagnosed too late." during the recent china-korea medical and patient exchange meeting on rare genetic metabolic diseases, chinese patient representative liu yingna shared this case.

she told the reporter from china business news that ding ding suffers from methylmalonic acidemia (mma), an organic acid metabolic disease. in theory, patients with this disease can be immediately detected by tandem mass spectrometry screening for neonatal genetic metabolic diseases after birth. however, according to statistics from patient organizations, only about 37.45% of patients are found in neonatal screening. "if diagnosed earlier, ding ding's experience could have been avoided."

september 12 is china's birth defect prevention day. according to relevant research, 80% of rare diseases in china are genetic diseases, of which 35% occur before the age of 1. the latest data from the national health commission shows that as of the end of august, the screening rate of two genetic metabolic diseases [phenylketonuria (pku) and congenital hypothyroidism (ch)] in newborns nationwide reached 98.7%.

but there are far more than two types of inherited metabolic diseases in newborns. in recent decades, the emergence of new screening technologies has promoted the expansion of newborn screening diseases. currently, 40 to 50 diseases can be detected through "one drop of blood". however, due to the different number of diseases included in newborn screening in different places, some children may miss the best time for intervention due to screening gaps, causing irreversible lifelong damage.