Hyperaminoacidemia

Hyperaminoacidemia is a condition in which there is an increased level of free amino acids in the blood. This occurs as a result of a violation of amino acid metabolism, which can be associated with various diseases and nutritional disorders.

Hyperaminoacidemia can be caused by a variety of factors, including genetic disorders, liver and kidney diseases, nervous system diseases, infections and other diseases. They can present with a variety of symptoms, such as headache, weakness, nausea, vomiting, weight loss and altered consciousness.

To diagnose hyperaminoacidemia, it is necessary to conduct a blood test to measure the level of free amino acids. Treatment depends on the cause of the disease and may include medications, diet changes, and other treatments.

It is important to remember that hyperaminoacidemia can be life-threatening, so if symptoms of the disease appear, you should consult a doctor for diagnosis and treatment.

Hyperaminoacidemia (HAA) is a rare metabolic disorder characterized by elevated concentrations of one or more amino acids in the blood. It is caused by a metabolic disorder in the body, which causes symptoms that usually appear in childhood. However, this disease can also occur in adults.

The mechanism of development of GAA occurs due to a deficiency of one or more enzymes responsible for the normal metabolism of amino acids. This can cause the body to be unable to use these amino acids normally and they accumulate in the blood, causing various symptoms.

Hyperaminoasiademia is divided into two types:

1. Impaired urea metabolism. With this type of HAA, an increased content of acid urea residues is observed in the blood plasma in the form of urea uria. This type is rare, but cataracts and other eye pathologies are also often observed with it. 2. Hereditary - caused by the presence of a pathological gene. This type of disease is divided into several groups: variants in which the synthesis of one amino acid or a whole pool, methionine, leucine, arginine, proline, lysine, threonine, isoleucine and other components of protein metabolism is changed. In the latter individuals, in some cases, digestion is disrupted and skin defects are observed (exogenous manifestations). Less commonly, other manifestations of the disease increase and lead to death.

Symptoms of GAA vary and depend on the type of disease. Typically they include: - Fatigue. May occur regardless of physical activity. Children and adults may feel tired after short walks. - Stomach ache. They may be stabbing or rumbling. In most cases, the pain spreads throughout the entire abdomen, without even