Aminoaciduria Hereditary

Aminoacidopathy (aminoaciduria) is a group of hereditary diseases characterized by impaired amino acid metabolism, leading to dysfunction of various organs and systems of the body.

Aminoacidouria is a hereditary disease caused by a violation of the metabolism of acids with a branched carbon chain.

The disease is inherited in an autosomal recessive manner.

Etiology. The defective gene is localized on chromosome 14 (q32).

A congenital gene defect leads to impaired protein synthesis in the kidneys.

In this case, amino acids with branched side chains accumulate in the blood and urine: lysine, leucine, isoleucine.

Clinical picture. Clinical manifestations of the disease are associated with damage to the kidneys and other organs.

Manifestations of the disease may vary depending on the severity.

Patients experience delayed physical development, mental retardation, convulsions, impaired coordination of movements, and neurological symptoms.

Main manifestations:

– renal dysfunction;
– decreased intelligence;
– growth retardation.