Aminoaciduria is a syndrome of metabolic disorders and transport of one or more amino acids from the body. It is detected in a variety of metabolic diseases associated with the pathology of cell membranes in the renal tubules, usually of a genetic nature.
The prevalence of this syndrome is relatively high, it is 1: 1000 people, it is more common in females and is diagnosed at birth, but there is also acquired aminoaciduria, which can manifest itself at any age.
Depending on the pathogenesis of development, several forms of the condition are shared:
- Renal – the content of acids in the body is reduced due to insufficient transport enzymatic systems and reabsorption in the renal tubules, this condition is observed in homocystinuria, Hartnup’s disease, characterized by gross disorders of psychomotor development, atrophy of the optic nerve, convulsive syndrome, deformity of the spine and limbs.
- Prerenal – the content of amino acids increases due to enzymatic diseases, their amount exceeds the reabsorption capacity of tubular cells, overload develops. A striking example is phenylketonuria and phenylpyruvic oligophrenia, accompanied by disorders of the central nervous system, profound mental retardation, gait disorders, hyperkinesis, and “mouse” odor.
- Secondary – occurs against the background of other pathologies. By the amount of released acids, specific (one acid) and nonspecific (several acids) aminoaciduria are distinguished.
Causes of the disease
Etiological reasons for the development of renal and prerenal aminoaciduria are genetically determined fermentopathies: phenylketonuria, homocystinuria, ketoaciduria, Hartnup’s disease.
These diseases are inherited in an autosomal recessive manner and all are characterized by genetic deficiency of enzymes involved in metabolism. A predisposing factor is the presence of a damaged chromosome in both parents, which is responsible for the formation of one or another amino acid.
Secondary aminoaciduria is a consequence of prolonged exposure to the body of exo- and endogenous substances:
- Poisoning with lead, copper, uranium, oxalic acid.
- Wilson-Konovalov’s disease – hepatocerebral dystrophy.
- Nephrotic and nephritic syndrome.
- Debre-Franconi syndrome is a generalized pathology of the proximal tubules.
- Myeloma disease.
It is possible to suspect fermentopathy in offspring even when planning a pregnancy, for this it is enough to undergo a genetic consultation with the intended parents with a detailed analysis of genetic maps to identify amino acid deficiencies.
To confirm the already existing pathology, data from laboratory and instrumental research methods are used.
From the 5th to the 10th day of life, capillary blood is taken from the heel of the newborn for an extended analysis of enzymes, making it possible to recognize the pathology in the early stages and prescribe treatment.
With prerenal aminoaciduria, the urine of the newborn is taken, mixed with a solution of ferric chloride or fenistiks. In the presence of phenylalanine in the urine, a reaction with iron occurs, the urine turns purple.
The disadvantage of this method is that the reaction can be positive only in the second month of life, when irreversible brain damage is already present.
In the renal form, a colorimetric cyanide-nitroprusside test is used, which confirms the presence of amino acids in urine, which a healthy person should not have, as well as a chromatographic study of amino acids in urine and blood.
Instrumental methods: ultrasound examination visualizes the expansion of the renal tubules with their pronounced overload.
Electroneuromyography of the brain: there is a moderate pyramidal insufficiency in combination with severe motor peripheral neuropathy.
On the electroencephalography of the brain – diffuse slowing down, less often epileptiform activity is determined.
With secondary forms of aminoaciduria, similar studies are carried out, supplemented by anamnestic data of the disease.
In the secondary form of the syndrome, the underlying disease is treated, after which the aminoaciduria disappears without a trace.
Treatment of congenital enzymatic diseases consists in a lifelong diet with limited consumption of foods containing the amino acid, an excess of which led to aminoaciduria, is selected individually by the attending physician.
Correction of symptoms is carried out pathogenetically:
- Decreased muscle tone: Tizanidine.
- Anticonvulsant therapy: Valproic acid, Carbamazepine, Levetiracetam.
- Hormone therapy for severe forms: Prednisalone, Methylprednisalone, Dexamethasone.
- Correction of electrolyte balance.
- Improvement of microcirculation (angioprotectors): Pentoxifylline, Trental.
- Antithrombotic therapy: Detralex, Phlebodia.
- Cerebroprotective therapy: Neuromultivitis, Cortexin, Phenotropil.
Physical therapy aimed at correcting movement disorders and reducing seizures.
Periodic treatment is required in special rehabilitation centers with courses of psychotherapy and psychocorrection.
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