From April 1, all newborns in the country will be screened for two dangerous genetic diseases that lead to severe neurological disorders: X-linked adrenoleukodystrophy and aromatic L-amino acid decarboxylase deficiency. The first hereditary disease is associated with impaired fat metabolism, which threatens the brain, and the second is associated with a critical shortage of vital substances in the nervous system.
The inclusion of these diagnostic methods in the expanded neonatal screening will allow detecting diseases at an early stage, starting treatment in a timely manner and preventing severe disability in children, RIA Novosti was told by Sergey Kutsev, chief freelance specialist in medical genetics at the Ministry of Health.
So far, the list of diseases for expanded neonatal screening includes 36 conditions, including primary immunodeficiencies and spinal muscular atrophy. Testing is carried out by taking blood from the newborn's heel in the first two days of life (on the seventh day - in premature babies).
