Persistent tyrosinemia detected by thin-layer chromatography.
Screening for tyrosinemia is not routinely performed worldwide. Using a low expense thin-layer chromatography (TLC) for amino acids we detected a high frequency of transient tyrosinemia with secondary hyperphenylalaninemia in some newborns. Serum follow up showed the need to introduce adequate therapy in these babies.
Neto
E C
EC
Nobel RIE Laboratory, Neonatal Screening Center, Rurto Alegre, RS, Brazil.
Schulte
J
J
Anele
E
E
Becker
D
D
Rubim
R
R
Lewis
E
E
De Mari
J
J
Giugliani
R
R
D002855:Chromatography, Thin Layer; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening; D010649:Phenylalanine / Q000097:blood*; D014443:Tyrosine / Q000097:blood*; D020176:Tyrosinemias / Q000175:diagnosis* / Q000628:therapy
D014443:Tyrosine; D010649:Phenylalanine