A child was found to have eye abnormalities and hearing loss, and the parents inquested about the treatment cost and methods at the Yuzhou Children’s Hospital in Xuchang City, Henan Province.
A 5-month-old baby with a genetic metabolic disease exhibits symptoms such as paleness, weakness, excessive sleepiness, and intermittent crying.
Prenatal diagnosis of genetic metabolic diseases requires identifying the disease type and locating the causative genes.
Ornithine genetic metabolic disease is a condition caused by metabolic issues, which affects the life expectancy of the affected children.
Understanding the Methods to Check for Genetic Metabolic Disorders
After the baby’s birth on the sixth day, the hospital notified a preliminary screening result of indeterminate positive for genetic metabolic disease, and parents are concerned about the severity of the disease and its prevalence rate. They are also worried about any distinctive symptoms and the baby’s health condition, expressing urgency!
Neonatal genetic metabolic disease propionylcarnitine C3 abnormality requires follow-up examination and special dietary intervention
Phenylketonuria is a genetic disease that can be diagnosed and treated early through newborn screening to prevent complications.
If an infant has elevated C3 propionylglycine levels, it is recommended to review for confirmation and consider special dietary treatment.
