Congenital hypothyroidism, previously known

as cretinism, is a severe deficiency of thyroid

hormone in newborns. It causes impaired
neurological function, stunted growth, and
physical deformities. The condition may occur
because of a problem with the baby’s thyroid
gland, or a lack of iodine in the mother’s body
during pregnancy.
A baby’s body needs iodine to make thyroid
hormones. These hormones are essential for
healthy growth, brain, and nervous system
development.
Congenital amino acid metabolism disorder is one of three rare congenital metabolic
disorders in newborns. There is no cure for the disease, only treatments aimed at
limiting the symptoms of the disease.
1. What is congenital amino acid
metabolism disorder?
Metabolism is the process by which the body creates energy from food (food made
up of proteins, carbohydrates and fats) that people eat every day. The digestive
system will convert food into sugars and acids to create energy for the body to use
immediately or store it in the body.
However, when there is a disorder of amino acid metabolism, the mutated genes
make the enzyme unable to synthesize, break down or absorb amino acids from
protein-containing foods (meat, fish, eggs, milk...). This leads to the accumulation of
metabolic products and abnormal metabolites in cells and organs that cause disease.

2. Causes of congenital disorders of amino

acid metabolism
Congenital amino acid metabolism disorder used to describe a group of molecular
genetic diseases. The cause of innate amino acid metabolism is a genetic disorder
leading to defects in the structure and function of enzymes, hormones, receptors,
transport proteins and factors involved in the metabolism of nutrients in the body.
human body.
Congenital amino acid metabolism disorder is one of three rare congenital metabolic
disorders in infants (inborn sugar metabolism disorder and inborn fat metabolism
disorder). At the same time, the disease also causes very high mortality in children.
3. Symptoms of congenital amino acid
metabolism disorder
Congenital amino acid metabolism disorder is difficult to detect and can be confused
with a number of other diseases. The disease progresses quickly, some common
symptoms in children include:
Lethargy, lethargy, stop feeding, vomiting, coma, convulsions High fever, poor health,
growth retardation, malnutrition , bloated stomach Prolonged jaundice ; Unusual foul-
smelling urine and sweat Diarrhea and dehydration Rapid breathing, pauses in
breathing, or irregular heartbeat

4. Methods of treating congenital amino

acid metabolism disorders
Inborn amino acid metabolism disorders in general and the group of congenital
metabolic disorders do not have a radical treatment method. Treatment is aimed at
limiting the symptoms of the disease. Some measures to limit the effects of the
disease such as:
Diet: Avoid foods that cannot be metabolized by the body. Periodic health checkups.
Supplement vitamins and minerals necessary for the body. Preventing death from
congenital metabolic disorders needs attention. Therefore, the most important thing
is proper diagnosis and early treatment to avoid health and mental sequelae and
maintain a healthy life.