Суббота, Май 25, 2019

Autism as a metabolic problem

КОММУНАЛЬНОЕ НЕКОММЕРЧЕСКОЕ ПРЕДПРИЯТИЕ ХАРЬКОВСКОЙ ОБЛАСТНОЙ РАДЫ «Межобластной специализированный медико-генетический центр редких (орфанных) заболевани»
Харьковский специализированный медико-генетический центр (ХСМГЦ) занимается исследованиями в генетике и эпигенетике, диагностикой и лечением аутизма, дефицита внимания, слуховой нейропатии, муковисцидоза, нарушений метаболизма, обмена аминокислот, а также других редких генетических (орфанных) заболеваний.
Харьков, Проспект Независимости, 13
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  • https://www.clingenetic.com.ua//materials/our-publications/item/44-autism-as-a-metabolic-problem.html?tmpl=component&print=1

AUTISM - (from the Greek autos - self), is a complex neurobiological disorder, a severe mental disorder, an extreme form of self-imposed isolation that occurs as a result of developmental disorders of the brain.

The bad habits of parents (smoking, alcohol, drugs) may increase the risk of damage to the nervous system of the child's. An important factor is also the reception potent drugs before pregnancy and earlier (including early pregnancy preservation).
If the patient has mitochondrial pathology, the brain is affected in a complex, primarily suffering white matter. The leading symptoms may be delayed speech development, autistic behavior, seizures, ataxia
When the human enzyme activity folate cycle - methylenetetrahydrofolate reduced, this leads to disruption of methylation (switching on and off of gene activity), and then run many hereditary syndromes and multifactorial.
In Ukraine, the frequency of such changes is high and this has led to the spread of the carriers of altered genes.
Hyperhomocystinuria (HCU) is a inherited condition that affects the metabolism of methionine.
It is not known exactly how many patients with HCU there are.

Pathology of cardiovascular system

  • Coronary Artery Disease
  • Deep Vein Thrombosis
  • Peripheral Vascular Disease
  • Stroke
  • Myocardial Infarction

CONCLUSIONS:


  • The disorders of sulfur amino acid metabolism are rare but easy to ascertain if metabolic screening of urine is done unsparingly.
  • Diagnostic confirmation by enzyme assay will to some extent be replaced by analysis at the DNA level, although a variety of mutations may cause difficulties in some disorders.
  • Current therapeutic efforts are restricted by our knowledge of pathophysiologic mechanisms.
  • As for other inborn errors of metabolism, gene therapy holds promise for the future.

 

2019-04-17 14:45:18