A rare metabolic disorder causes the baby to die gradually

HanoiOne day after birth, baby Mai Anh wheezed, breathed hard, and breathed faster and faster a week later.

The baby was taken to the Central Children’s Hospital for examination, and was diagnosed with severe pneumonia. Echocardiography detects hypertrophy of the heart muscle – a disorder of the heart muscle, making the heart less able to contract blood circulation, causing heart rhythm disturbances.

Doctor Vu Chi Dung, Head of the Department of Endocrinology – Metabolism – Genetics, noticed that Mai Anh had accompanying signs like thick tongue, decreased movement. He suspects the baby has a Pompe metabolic disorder, a very rare type of lysocytosis. The blood test showed that it was true that the baby had this disease.

Pompe Metabolic Disorder is an inherited neuromuscular disorder that causes gradual disability and potentially death. It is caused by a deficiency of enzymes, which causes the accumulation of glycogen in the body, leading to damage to the skeletal muscles, respiratory muscles and the heart muscle. The incidence of Pompe disease fluctuates around 1 in 40,000 people.

The disease is divided into two types, including the appearance in children and the late onset form (teen or adult). In the infant form, clinical manifestations appear before the age of two, causing muscle weakness, poor swallowing, thick tongue, enlarged liver and hypertrophic cardiomyopathy, causing the child to suffer from respiratory failure or respiratory infection, often death. die before the age of one if not treated. For the other, the disease occurs after two years of age, with little or no effect on the heart muscle, so a longer life time, the patient will not be able to walk and have respiratory failure.

Treatment of Pompe disease requires a combination of many different specialties such as enzyme replacement therapy, myocardial symptoms, respiratory support, a high-protein, low-carbohydrate diet or a L-alanine-rich diet. Currently, enzyme replacement is the most effective and specific treatment for Pompe disease. Pompe patients need a lifetime replacement enzyme infusion, once every 1-2 weeks. Funding for a patient is about 1.7 billion VND per year.

Dr. Dung said that from 2014 up to now, the Department of Endocrinology – Metabolism – Genetics discovered 52 children with Pompe metabolic disorder, treating 25 children. Before 2014, no Pompe case was diagnosed with the correct name Pompe disease, but only diagnosed as hypertrophic cardiomyopathy and root muscle weakness, unexplained.

Mai Anh is a lucky case diagnosed early (from 45 days old). Pediatric patients, receiving support from a donor, started on enzyme replacement therapy at 2 months of age.

Dr Dung said that the diagnosis and treatment process for patients with Pompe metabolic disorder is much improved by the care and support from the medical authorities and the hospital. In 2019, the Ministry of Health and Social Insurance decided to pay 30% of health insurance for the cost of enzyme infusion. There is also the help of sponsoring organizations and units.

The symptoms of Pompe disease are quite difficult to detect, the doctor said. When symptoms appear clear, then the manifestation is already severe. Therefore, parents should pay special attention when babies have manifestations such as wheezing, purple around the lips when suckling, muscle weakness, slow movement … With older children, it can be easier to recognize than through through slow mobility, weak walking and difficulty climbing stairs. When recognizing these signals, relatives need to bring their children to directly examine the Pediatric Hospital or Pediatric Specialist to determine the cause, treat as soon as possible, increase the chances of prolonging life.

Pre-marital health check, genetic counseling, and prenatal screening are necessary. In particular, genetic testing, chromosome making can help identify a future parent carrying a gene mutation related to metabolic disorders or not.

* Patient name is changed


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