Saving an 8-day-old child with congenital metabolic disorder

Thanh Chân |

HCMC - The 8-day-old newborn was taken to the hospital in a state of entertainment, convulsions, and respiratory arrest. The doctor diagnosed the child with a rare congenital metabolic disorder.

On March 1, Children's Hospital 2 said that the unit had continuously filtered blood, promptly saving the life of an 8-day-old newborn baby (Binh Duong). The baby was born at full moon and weighed 2.65kg at birth.

According to Dr. Nguyen Pham Minh Tri - Deputy Head of the Neonatal Resuscitation Department, Children's Hospital 2, on the 8th day after giving birth, the child suddenly had a high fever of 39 degrees Celsius, was tired, lethargic, and was called by the family but unconscious. The child was taken to the hospital in a state of anesthesia, convulsions, and respiratory arrest.

screening tests showed that NH3 in the blood increased very high. The patient was prescribed by the doctor to continuously filter the blood to lower NH3, and undergo intensive tests.

Thanks to timely intervention, after 3 days of blood filtration, the child regained consciousness and recovered muscle tone. Tests returned to normal.

Doctor Tri added that the results of the in-depth test showed that the patient had Isovaleric Acidemia. This is a rare congenital metabolic disorder due to a deficiency of the enzyme Isovaleryl-CoA Dehydrogenase in the metabolism of amino acid Leucine.

Leucine is an essential amino acid found in baby milk. Due to disability, the body cannot metabolize this substance, drinking regular milk will often cause a buildup of toxic substances that are harmful to children.

Parents need to pay attention to early symptoms (in the newborn stage), children are at risk of developing diseases such as poor feeding, vomiting, hypoglycemia, coma, convulsions... With late symptoms of the disease, that is, the young age stage includes slow intellectual development, physical development delay with neurological - motor disorder.

For children with metabolic disorders, conventional milk can become toxic, promoting more severe symptoms.

Therefore, children need to tolerate specialized milk, which plays a vital role in maintaining and supporting the child's development. However, the cost of these types of milk is quite high, which can cause difficulties for many families.

According to Dr. Tri, early detection of the disease helps children receive timely intervention, increases the likelihood of saving lives and reduces sequelae later. Thereby, reducing the burden of treatment costs if there are long-term sequelae, contributing to improving the quality of life for children.

As soon as parents notice unusual signs in children such as poor feeding, prolonged vomiting, hypoglycemia, convulsions, strange body odor, changing urine color... they should take the child to the hospital for timely diagnosis and treatment.

Thanh Chân
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