Disorders of amino acid metabolism
Let’s get to know all this important information about Disorders of Amino Acid Metabolism in the following article.
Amino acids are the essential components of proteins. Section of amino acids (Glycine, glutamate , gamma acid – aminobutyric acid) acting as media in the nervous system (neurotransmitters) and another section (Phenylalanine, Tyrosine, Tryptophan and glycine) are molecules that form the cornerstone of hormone building, enzymatic aid (coenzyme), nerves, purines or pyrimidines.
See More Thyroid Peroxidase Antibodies
Each of the amino acids has a special and different break-up pathway, and when the amino acid loses its amino group it turns into organic acid. To date, dozens of enzymatic disorders have been identified in the amino acid deformation pathways, some of which are acidic intake in the amino-acid uria group. In addition, there are many disorders in the transfer of certain types of amino acid in the intestines and/or in the kidneys (e.g. cystinuria or Hartnup disease – Nicotinamide metabolism) as well as an exit disorder of the enzymes (cystinosis).
These diseases are not widespread but rare in proportion to one in every 10,000 people with Phenylketonuria or cystinuria. One in every 20,000 people is affected by homocystinuria or alcaptonuria. When all these diseases are combined, the prevalence of one in every 1,000 births is 1000.
The method of inheriting these diseases is considered to be an autosomal recessive inheritance in the absolute majority.
Clinical signs of the disease are mostly caused by the accumulation of toxic intermediates that cause certain damage, such as Phenylalanine, Phenyllactic acid, Phenyl pyruvic acid and phenylacetic acid in phenylacetic disease. Some of these disorders are benign and harmless, such as the presence of histidinemia in the blood, due to the accumulation of a non-toxic intermediate, but the pathogenesis process (pathogenesis) is often not understood. The most vulnerable organs are the brain followed by the liver and then the kidneys.
Diagnosis of amino acids
The infection is often detected by tests to test the concentration of amino acids in blood serum fluid and sometimes also in urine. Some cases also require a test to examine organic acids in the urine.
Treatment of amino acids
The treatment is based on diet regulation so that it prevents the intake of foods containing proteins and amino acids common to a disturbed metabolic pathway. Some of these disorders are examined as part of routine check-ups performed at the birth of a baby.
A unique treatment method for tyrosinemia type 1 has recently been adopted. Biochemical inhibition occurs in the pre-genetic stages of the disease. By receiving Nitisinone -NTBC, the course of the disease changes to become benign (this method is also being tried to treat alcaptonuria). Today, a large and increasing number of these disorders can be performed prenatal diagnostic examinations.