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Articles in Congenital metabolic disorder

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The dangers of congenital metabolic disorders
The main cause is congenital metabolic disorders. Congenital metabolic disorders (CMD) are a dangerous disease in newborns with a high mortality rate. However, the worrying thing is that very few mothers know about this disease.
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What tests should be done to detect congenital metabolic disorders early?
Inborn errors of metabolism are one of the abnormalities that can occur in some newborns. This disease appears before the child is born and is characterized by ineffective functioning of metabolic reactions of groups of substances in the body. So what should be done when the child is tested for congenital errors of metabolism?
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Congenital amino acid metabolism disorders: Causes, symptoms and treatment
Congenital amino acid metabolism disorders are one of three rare congenital metabolic disorders in newborns. There is no cure for the disease, treatment methods only aim to limit the signs of the disease.
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Congenital urea cycle disorder: Causes, symptoms and treatment
If congenital urea metabolism disorder is not detected early and treated promptly, it can lead to serious complications, even death. Currently, there is no radical cure for the disease, the main treatment methods include: Reducing the concentration of nitrogen in the blood serum, reducing the consumption of foods containing nitrogen in the diet, etc.
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Newborn screening heel blood test
Screening tests are simple, easy-to-perform methods that do not affect health to identify individuals at high risk of developing a certain disease.
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Which infants are prone to hypoglycemia?
Although hypoglycemia may only occur transiently in the early postpartum period, if not detected and treated early, it will cause unpredictable complications. So to avoid the condition from worsening, what should parents do when their newborn has hypoglycemia?
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Learn about beta-ketothiolase deficiency (BKT)
Beta-ketothiolase deficiency is an inborn metabolic disorder. The disease is inherited on the chromosome due to mutations in the T2 gene (ACAT1) located on the long arm of chromosome 11 (11q22.3-q23.1) that encodes the enzyme acetoacetyl CoA thiolase, also known as the beta-ketothiolase enzyme.
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Genetic counseling in medical care
Genetic counseling is a medical counseling process that aims to help individuals, couples or families understand and accept the medical, psychological, family-social relationship problems and the impact on the next generation caused by genetic diseases.
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Cardiology Pediatrics Orthopedics