Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
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Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency. / Santer, René; Gokçay, G; Demirkol, M; Gal, Andreas; Lukacs, Z.
In: J INHERIT METAB DIS, Vol. 28, No. 2, 2, 2005, p. 137-140.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
AU - Santer, René
AU - Gokçay, G
AU - Demirkol, M
AU - Gal, Andreas
AU - Lukacs, Z
PY - 2005
Y1 - 2005
N2 - Two cases of molecular genetically proven lipoprotein lipase deficiency are reported. Both patients were detected owing to a false-positive neonatal screening test for biotinidase deficiency. We conclude that both the fluorimetric and the colorimetric screening tests for biotinidase deficiency used with dried blood samples are affected by severe hyperchylomicronaemia and that, most probably, severe plasma turbidity interferes with the assay.
AB - Two cases of molecular genetically proven lipoprotein lipase deficiency are reported. Both patients were detected owing to a false-positive neonatal screening test for biotinidase deficiency. We conclude that both the fluorimetric and the colorimetric screening tests for biotinidase deficiency used with dried blood samples are affected by severe hyperchylomicronaemia and that, most probably, severe plasma turbidity interferes with the assay.
M3 - SCORING: Zeitschriftenaufsatz
VL - 28
SP - 137
EP - 140
JO - J INHERIT METAB DIS
JF - J INHERIT METAB DIS
SN - 0141-8955
IS - 2
M1 - 2
ER -
