ID 111648
Author
Watanabe, Toshiyuki The University of Tokushima|Kagawa Prefectural Tsuda Hospital
Ito, Michinori The University of Tokushima
Naito, Etsuo The University of Tokushima
Yokota, Ichiro The University of Tokushima
Matsuda, Junko The University of Tokushima
Keywords
homocystinuria
newborn screening
cystathionine β-synthase
methionine
homocyst(e)ine
Content Type
Journal Article
Description
We present two siblings with vitamin B6-nonresponsive homocystinuria due to a deficiency of cystathionine β-synthase who had different levels of methionine in the blood during the neonatal period, even though they had the same genetic defect. One of them was missed in the screening of newborns for homocystinuria. Special care should be taken in screening neonates for homocystinuria using the blood level of methionine.
Journal Title
The Journal of Medical Investigation
ISSN
13431420
NCID
AA11166929
Publisher
The University of Tokushima School of Medicine
Volume
44
Issue
1-2
Start Page
95
End Page
97
Sort Key
95
Published Date
1997-08
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Publisher
departments
Medical Sciences