This condition of vomiting and choking on breast milk, known as methylmalonic acidemia, metabolic diseases list is the most common of the congenital organic acid metabolic abnormalities and is an autosomal invisible genetic disorder.
The most common clinical manifestation of the disease is repeated vomiting of milk as the first symptom. Difficulty in feeding, no weight gain, poor mental status and delayed development are early signs.
If methylmalonic acid hematologic disease can be detected early and treated early, it can save the life of the infant.
How to identify this horrible disease, especially for newborns, is of paramount importance.
Most children go through a tortuous medical process before they are diagnosed. Therefore, parents should have their children examined early for unexplained vomiting of milk, abnormal muscle tension, and development.
Currently, gas chromatography-mass spectrometry (GC-MS) is mainly used to analyze urinary organic acids or to screen for various genetic metabolites in the blood for the diagnosis of the disease.
Fetal decidual cells can be extracted from amniotic fluid at 16-20 weeks of gestation, and umbilical vein puncture can be performed at 26-30 weeks of gestation to extract fetal blood cells as a prenatal diagnosis for target mutation loci to eliminate the defect.
If a child is diagnosed, their siblings and parents should be screened and genetically diagnosed.
Consider determining the cause of the child's birth in the future. Methylmalonic acidemia is a lifelong condition that is both a financial and psychological test for the family.