Patient's question:
The child is now 2 years and 5 and a half months old and only knows simple words like "" and "". Their walking posture is not good, they cannot run or jump, their fine motor skills are poor, their swallowing function is not good, they drool a lot, and they cannot control their bowel and bladder. In terms of understanding, adults feel there is no problem.Doctor's answer:
Lighter cases have lower levels of methylmalonic acid. Intake of propionate and methylmalonic acid precursor proteins or amino acids can increase methylmalonic acid accumulation, or even trigger ketoacidosis or acidosis. Some cases show hypomethioninemia and cystathioninuria. Prenatal diagnosis can be performed by measuring the concentration of methylmalonic acid in amniotic fluid or maternal urine in the second trimester, or by determining the enzyme activity in cultured amniotic fluid cells.