Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency

Santer R., Gokcay G. F., Demirkol M., Gal A., Lukacs Z.

JOURNAL OF INHERITED METABOLIC DISEASE, cilt.28, sa.2, ss.137-140, 2005 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 28 Sayı: 2
  • Basım Tarihi: 2005
  • Doi Numarası: 10.1007/s10545-005-7060-5
  • Dergi Adı: JOURNAL OF INHERITED METABOLIC DISEASE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.137-140
  • İstanbul Üniversitesi Adresli: Hayır

Özet

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.