TURKISH JOURNAL OF BIOCHEMISTRY-TURK BIYOKIMYA DERGISI, cilt.44, ss.482-486, 2019 (SCI-Expanded)
Background: Biotinidase deficiency is a treatable metabolic disease that can be seen with various neurological
and dermatological complications. Biomarkers such as
alanine, propionylcarnitine (C3) and 3-hydroxyisovalerylcarnitine (C5-OH), which are used to diagnose biotinidase
deficiency, are also present.
Materials and methods: In cases with partial biotinidase
deficiency and normal biotinidase activity, alanine, C3
and C5-OH levels were compared in the field by liquid
chromatography-tandem mass spectrometry.
Results: There was no significant difference between
subjects with partial biotinidase deficiency and those
with normal biotinidase activity between C3 and C5-OH
levels. The mean alanine levels in heel blood and plasma
were significantly higher than those with normal biotinidase activity in patients with partial biotinidase
deficiency.
Conclusion: In cases with partial biotinidase deficiency,
the heel blood alanine level that can be detected in the
neonatal screening program may be a leading marker in
diagnosis.