|
KMID : 0918520130130020089
|
|
Journal of the Korean Society of Inherited Metabolic Disease
2013 Volume.13 No. 2 p.89 ~ p.97
|
|
|
Differential Diagnosis of Galactosemia Detected by Neonatal Screening
|
|
Choi Sung-Yoon
Song Woong-Ju
Lim Han-Hyuk
Kil Hong-Ryang
Kim Sook-Za
|
|
|
Abstract
|
|
|
Purpose: We retrospectively investigated individuals who hadbeen identified by neonatal screening as potential galactosemia patients to determine the etiology of galactosemia.
Methods: One hundred fifty-three patients referred to Korea Genetics Research Center due to high galactose level detected by neonatal screening test between February 2005 and May 2013 were examined. Galactose and galactose-1-phosphate levels were measured by using a fluoro metric microplate reader. Lactose free diet was initiated immediately after confirmed by urine Clinitest. If reducing sugar was negative, we employed abdominal sonogram and echocardiogram to check for possible porto-systemic shunt.
Results: Fifteen patients were diagnosed with galactosemia. One patient had galactokinase (GALK) deficiency; four had UDP galactose-4-epimerase (GALE) deficiency; two had citrin deficiency; and four had porto-systemic shunt. Two had unknown causes of galactosemia.
Conclusion: In addition to genetic defects of GALT, GALK and GALE, citrin deficiency or porto-systemic shunt could also cause galactosemia. It is crucial to carry out differential diagnosis to determine the cause of galactosemia.
|
|
|
KEYWORD
|
|
|
Galactosemia, Porto-systemic shunt, Neonatal screening
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|