At birth, Eli was diagnosed with Phenylketonuria (PKU), that is, he lacks an enzyme in his liver that does not properly break down the amino acid, phenylalanine, commonly found in proteins.
Category Archives: Metascreen
Screening is key to prevention of silent killers – Medium Chain acyl-CoA dehydrogenase deficiency (MCAD)
This story is shared by a family who lost a child to MCAD – Ben’s family .
Baby Lina was warded in the neonatal intensive care unit after showing signs of muscle weakness, low breathing rate, low cortisol, poor feeding and dehydration (dehydration).
Corrigan, now 7, enjoys his time splashing in the inflatable pool, something his parents never knew possible. As soon after birth, he was diagnosed with Citrullinemia.