The dangers of congenital metabolic disorders

The article is professionally consulted by Master, Doctor Vu Quoc Anh - Pediatrician - Department of Pediatrics - Neonatology - Vinmec Danang International General Hospital.

The main cause is congenital metabolic disorders. Congenital metabolic disorder (RLCHBS) is a dangerous neonatal disease with a high mortality rate. However, it is worrying that very few mothers have knowledge about this disease.

Inborn metabolic disorders are a group of diseases caused by the deficiency of enzymes, receptors, transport proteins or synergistic factors in the metabolism of amino acids, fatty acids and organic acids. Thereby changing the cycle of synthesis or degradation of substances in the body, forming abnormal products that cause cell toxicity, organ failure. If not treated in time, the patient will die.
During pregnancy, the baby absorbs nutrients that have been metabolized by the mother. But when the baby is born, the baby begins to suckle, the digestive system in the baby is active, the substances are not fully metabolized, and the new symptoms of the disease are shown.

Congenital metabolic disorders often develop in children under 12 months of age, also in many cases soon after birth, can be sudden or slow progression. Symptoms will vary greatly depending on the severity of the disease, the metabolic problem the child has. These symptoms also overlap with the manifestations of many other diseases, making it very difficult for both families and doctors to distinguish and properly recognize the disease the child is suffering from.
Symptoms right after birth (sudden), babies are born without any symptoms until they receive nutrients from outside with the following symptoms:
Lethargy, stop feeding, vomiting, stop breathing or rapid breathing despite no history of asphyxia at birth The abdomen is distended Urine and sweat have a foul odor or urine is more severe, the child will become comatose or convulsions The child will pass the infancy or illness stage develop slowly, symptoms may appear after taking certain foods, medications, or after a bout of dehydration, mild illness... including:

Seizures, coma Anorexia, abdominal pain, vomiting, urine, breath, sweat, or saliva with an unusual odor Weight loss, failure to gain weight, growth retardation, emaciation Persistent jaundice

The incidence rate is about 1/2000 babies and the mortality rate is very high (over 50%) just a few days after birth. Metabolic disorders appear in both boys and girls at equal rates.
This is a terrible disease, babies with this disease can die after being fed breast milk or regular formula. The disease is difficult to diagnose because it is easily confused with neonatal infections and other diseases. The disease progresses quickly, the child still has the possibility of death, even though it is detected and prevented from using nutrients directly from milk. Children are susceptible to the disease when both parents are carriers of the disease-causing gene. However, determining whether parents have this disease is not simple. In the fetus and at birth, the child is almost completely asymptomatic, making the diagnosis during pregnancy and birth almost impossible. Symptoms appear only after a few breast or bottle feedings. There are hundreds of different types of congenital metabolic disorders. Not many doctors and parents know about this disease, so it is difficult to detect the disease.

The correct diagnosis of the disease helps to reduce the mortality rate from 50% to 14%. Children with early treatment will avoid health and mental sequelae, and avoid death. Based on early and correct disease detection, effective treatment methods: children only need to avoid using foods and nutrients that cannot be metabolized by the body to maintain a healthy life. As a key area of ​​Vinmec Medical system, Pediatrics Department always brings satisfaction to customers and is highly appreciated by industry experts with:
Gathering a team of leading pediatricians: including leading experts with high professional qualifications (professors, associate professors, doctorates, masters), experienced, worked at major hospitals such as Bach Mai, 108.. Doctors All are well-trained, professional, with a mind - range, understanding young psychology. In addition to domestic pediatric specialists, the Department of Pediatrics also has the participation of foreign experts (Japan, Singapore, Australia, USA) who are always pioneers in applying the latest and most effective treatment regimens. . Comprehensive services: In the field of Pediatrics, Vinmec provides a series of continuous medical examination and treatment services from Newborn to Pediatric and Vaccine,... according to international standards to help parents take care of their baby's health from birth to childhood. from birth to adulthood Specialized techniques: Vinmec has successfully deployed many specialized techniques to make the treatment of difficult diseases in Pediatrics more effective: neurosurgery - skull surgery, stem cell transplantation. blood in cancer treatment. Professional care: In addition to understanding children's psychology, Vinmec also pays special attention to the children's play space, helping them to have fun and get used to the hospital's environment, cooperate in treatment, improve the efficiency of medical treatment. Master. Dr. Vu Quoc Anh has nearly 10 years of experience as a resident doctor and treating doctor at Hue Central Hospital and Danang Children's Hospital. Currently, he is a Pediatrician - Vinmec Da Nang International General Hospital.