Significance of Newborn Screening for Citrullinemia
R Kishore Kumar, Karambir Singh Gill, Shekar Subbaiah, Gauri Krishna
Inborn errors of metabolism (IEM) remains an enigma for many pediatricians, but few realize that they encompass a varied group of disorders ranging from amino acidurias to fatty acid oxidation defects and organic acidurias. There is enough anecdotal evidence and some academic publications to suggest that India has reasonably high incidence of urea cycle defects, accounting for many neonatal deaths.
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