Features of the manifestation and methods of providing help with glutaric acidia

Aciduria glutaric is a rare hereditary autosomal recessive type disease that is associated with metabolism.

Now distinguish the first type of disease, which is based on the deficiency of the enzyme glutaryl-CoA dehydrogenase. From the second type, this pathology is characterized by biochemical processes, clinical symptoms.

At the heart of the pathology is the accumulation of glutaric and hydroxyglutaric acid in the media, liquids and tissues of the human body, since there is no mechanism for their splitting. These substances in excess amount have a neurotoxic effect. There is a violation of both cortical and subcortical( mainly) brain structures, and the lag of psychomotor development.

Clinical manifestations of

All clinical manifestations of this pathology can be conditionally divided into two versions:

1. Acute. It flows according to the type of encephalitis, begins suddenly, develops within 24-72 hours.
2. Subacute. It flows more slowly. The death of a child in the absence of proper treatment occurs within the first ten years from the newly diagnosed symptoms of the disease.
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In the absence of adequate measures, the child has a violation of the simplest skills of self-service and constant muscle spasms, there is a convulsive syndrome, vomiting, a decrease in muscle tone that turns into rigidity.

In the most severe cases, the patient loses consciousness and coma sets in. Sometimes a child has a first attack after 2 years, and before that, only an increase in the skull may be noted. After relief of primary symptoms, extrapyramidal disorders persist as a result of disruption of the basal ganglia structure.

To provoke aciduria glutarum can infectious process, TBI, vaccination.

During the illness, the baby is marked:

• Violation of walking, speech and writing difficulties. Some doctors suggest that this child has cerebral palsy. Intellect does not suffer at the same time.
• Sometimes there is a fever, and other signs of a febrile condition, which is accompanied by a strong sweating. Some complain of visual impairment, cataract development, skin pigmentation.
• From the side of the nervous system, there are such changes as subdural hematomas and frontal-parietal atrophy.
• In some small patients, a white matter lesion of the brain is detected, but it has not yet been established whether it is directly related to glutar aciduria.
• Secondary complications accompanying this disease may be difficulties in feeding, gross deviations in the development of motor activity, aspiration syndrome.

The disease passes with periodic exacerbations and remissions, but it can result in the death of the child if the necessary measures are not taken in time.

With a timely diagnosis and normal treatment in a quarter of patients, complete recovery of psychomotor functions is noted.

Diagnosis of the disease

Since there is no characteristic symptomatology for such a disease, it is necessary to pass a biochemical analysis of blood and urine for its confirmation. It is necessary to do this with the slightest suspicion of this pathology, since measures must be taken immediately, so that irreversible changes do not develop. At the time of an attack, acidosis and ketosis can be detected.

An excess of glutaric acid confirms this type of disease. Sometimes the substance is not detected, in such cases, it is resorted to using DNA diagnostics or determining the activity of glutaryl-CoA dehydrogenase in leukocytes or fibroblasts.

CT and MRI of the brain are used as additional research methods. They may be an expansion of the cerebral ventricles, atrophic changes in some structures of the cortex and subcortical zone.

Treatment and prevention of

The methods of metabolic correction of this hereditary disease have been sufficiently studied, but the effectiveness of this therapy largely depends on how quickly this diagnosis is established and pathogenetic treatment is started.

First of all, to improve the condition should be with a review of nutrition. Exclude completely from the diet follows a number of protein substances - lysine and tryptophan. It is especially important to adhere to the time of eating, which prescribes the doctor. Often it can be carried out even at night.

During periods of seizures, the use of general symptomatic therapy - the withdrawal of convulsive syndrome, the correction of muscle tone - is practiced to alleviate the condition.

Prevention of the disease consists in preventing the development of infectious pathological conditions, preventing toxic metabolic crises.

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