Newborn screening for lysosomal storage disorders in Hungary

Judit Wittmann, Eszter Karg, Sàndor Turi, Elisa Legnini, Gyula Wittmann, Anne Katrin Giese, Jan Lukas, Uta Gölnitz, Michael Klingenhäger, Olaf Bodamer, Adolf Mühl, Arndt Rolfs

Research output: Chapter in Book/Report/Conference proceedingChapter

46 Citations (Scopus)


Even though lysosomal storage disorders (LSDs) are considered to be orphan diseases, they pose a highly relevant cause for morbidity and mortality as their cumulative prevalence is estimated to be 1:4,000. This is especially important as treatment in form of enzyme replacement therapy, substrate reduction therapy or stem cell transplantation is amenable for some LSDs. It is plausible that an early start of treatment might improve the overall prognosis and, even more important, prevent irreversible damage of key organs. To get a more precise insight into the real frequency of some LSDs in the general population, we screened 40,024 samples from the Hungarian newborn screening (NBS) program in Szeged for Fabry disease (FD), Gaucher disease (GD), Pompe disease (PD), and Niemann-Pick A/B (NPB) disease using tandem mass spectrometry. Altogether, 663 samples (1.66%) were submitted for retesting. Genetic confirmation was carried out for 120 samples with abnormal screening results after retesting, which identified three cases of GD, three cases of FD, nine cases of PD, and two cases with NPB. In some cases, we detected up to now unknown mutations – one in NPB and seven in PD – which raise questions about the clinical consequences of a NBS in the sense of late-onset manifestations. Overall, we conclude that screening for LSDs by tandem MS/MS followed by a genetic workup in identified patients is a robust, easy, valid, and feasible technology in newborn screening programs. Furthermore, early diagnosis of LSDs gives a chance to early treatment, but needs more clinical long-term data especially regarding the consequence of private mutations.

Original languageEnglish
Title of host publicationJIMD Reports
Number of pages9
Publication statusPublished - Jan 1 2012

Publication series

NameJIMD Reports
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312



  • Enzyme replacement therapy
  • Fabry disease
  • Gauche disease
  • Newborn screening
  • Recall rate

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)

Cite this

Wittmann, J., Karg, E., Turi, S., Legnini, E., Wittmann, G., Giese, A. K., Lukas, J., Gölnitz, U., Klingenhäger, M., Bodamer, O., Mühl, A., & Rolfs, A. (2012). Newborn screening for lysosomal storage disorders in Hungary. In JIMD Reports (pp. 117-125). (JIMD Reports; Vol. 6). Springer.