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HEREDITARY METABOLIC DISEASES DETECTABLE BY NEONATAL SCREENING

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Issue: 
8
Year: 
2011

S.Ya. Sarycheva, Cand. Med. Sci.; Prof. D.I. Zelinskaya Russian Medical Academy of Postgraduate Education

The paper considers the causes, clinical manifestations, and treatment principles of 5 hereditary metabolic diseases (phenylketonuria, congenital hypothyroidism, adrenogenital syndrome, galactosemia, and cystic fibrosis) detectable in newborn infants through screening.

Keywords: 
hereditary diseases
neonatal screening
blood sampling
a nurse
action algorithm



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