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, have poor fine motor skills, difficulty swallowing, and drool a lot. They also cannot control their bowel and bladder, but adults feel there is no problem with their understanding.Doctor's answer:
Mild 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 exhibit hypomethioninemia and cystathioninuria. Prenatal diagnosis can be performed by measuring methylmalonic acid concentration in amniotic fluid or maternal urine during the second trimester, or by assessing enzyme activity in cultured amniotic fluid cells.