Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry.
Hydroxyproline has the same integer molecular weight as leucine and isoleucine and is quantified with these by tandem mass spectrometry. An infant was diagnosed with hyperhydroxyprolinaemia following further evaluation of an elevated "leucine" level in newborn screening by tandem mass spectrometry.
Baykal
T
T
Children's Hospital, Department of Nutrition and Metabolism, Istanbul University, 34390 Istanbul. Turkey. tbaykal@istanbul.edu.tr
Karaaslan
I
I
Gokcay
G
G
Demir
F
F
Laleli
Y
Y
Demirkol
M
M
D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood* / Q000175:diagnosis; D005260:Female; D006801:Humans; D006909:Hydroxyproline / Q000097:blood*; D007231:Infant, Newborn; D013058:Mass Spectrometry; D015997:Neonatal Screening; D014421:Turkey
D006909:Hydroxyproline