Features displays and assist practices with glutaric aciduria

glutaric aciduria is a rare hereditary disease in an autosomal recessive manner, which is associated with metabolism.

now distinguish the first type of the disease, based on the lack of the enzyme glutaryl-CoA dehydrogenase.From this second type of pathology is different biochemical processes, clinical symptoms.The basis

pathology is the accumulation of glutaric acid and gidroksiglutarovoy media, fluids and tissues of the human body because there is no mechanism for their cleavage.These substances have in excess neurotoxic.There is a violation of both cortical and subcortical (mostly) structures of the brain, and the backlog of psychomotor development.

Clinical manifestations

All clinical manifestations of this disease can be divided into two options:

  1. Acute.Proceeds for the encephalitis type begins suddenly, it 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 decade of the new cases of disease symptoms.

In the absence of receipt of adequate measures in a child is a violation of the most elementary self-help skills and constant muscle spasms, convulsions notes, vomiting, decreased muscle tone, rolling in rigidity.

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

Provoke glutaric aciduria can infection process, traumatic brain injury, vaccination.

Over the disease in a baby marked:

  • Violation when walking, speech and writing difficulties.Some doctors have suggested such a child with cerebral palsy.Intelligence is not affected.
  • Sometimes there is fever, and other symptoms of fever, accompanied by heavy sweating.Some complain of blurred vision, cataracts, skin pigmentation.
  • the nervous system found changes such as subdural hematoma and phenomena frontoparietal atrophy.
  • Some young patients revealed loss of white matter of the brain, but has not yet been established whether it has a direct link with glutaric aciduria.
  • secondary complications that accompany this disease, may have difficulty in feeding, gross abnormalities of motor activity, aspiration syndrome.

disease passes with periodic exacerbations and remissions, but can result in the death of the child, if time does not take the necessary measures.

When delivered timely diagnosis and treatment of the normal one-quarter of patients have full recovery of psychomotor functions.

diagnosis disease

Because this disease is no typical symptoms, then to confirm it is necessary to hand over the biochemical analysis of blood and urine.It must be done at the slightest suspicion of this pathology, since the measures to be taken immediately in order not to develop irreversible changes.During the attack can be detected acidosis and ketosis.

Excessive amounts of glutaric acid confirms this kind of disease.Sometimes the material is not detected, in such cases resort to DNA diagnosis or determining the activity of glutaryl-CoA dehydrogenases in leukocytes and fibroblasts.

As additional methods of research used CT and MRI of the brain.They may be the expansion of the brain ventricles, atrophic changes of some structures of the cortex and subcortical areas.

Treatment and prevention techniques

metabolic correction of hereditary diseases studied enough, but the effectiveness of this therapy depends largely on how quickly installed the diagnosis and pathogenetic treatment started.

First of all, to improve the power supply to be revised.Exclude totally from the diet followed by a number of proteins - lysine and tryptophan.It is particularly important to adhere to the time the meal that the doctor prescribes.Often, it can be carried out even at night.

attacks in the periods in order to facilitate the application of the general state practice symptomatic treatment - removal of seizures, correction of muscle tone.

Prevention of disease is to prevent the development of infectious disease states, preventing toxic and metabolic crises.

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