Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.

Schlotawa L, Dierks T, Christoph S, Cloppenburg E, Ohlenbusch A, Korenke GC, Gartner J (2019)
JIMD reports 49(1).

Zeitschriftenaufsatz | E-Veröff. vor dem Druck| Englisch
 
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Autor/in
Schlotawa, Lars; Dierks, ThomasUniBi; Christoph, Sophie; Cloppenburg, Eva; Ohlenbusch, Andreas; Korenke, G Christoph; Gartner, Jutta
Abstract / Bemerkung
Multiple sulfatase deficiency (MSD) is an ultra-rare lysosomal storage disorder (LSD). Mutations in the SUMF1 gene encoding the formylglycine generating enzyme (FGE) result in an unstable FGE protein with reduced enzymatic activity, thereby affecting the posttranslational activation of newly synthesized sulfatases. Complete absence of FGE function results in the most severe clinical form of MSD with neonatal onset and rapid deterioration. We report on a preterm infant presenting with hydrops fetalis, lung hypoplasia, and dysmorphism as major clinical signs. The patient died after 6 days from an intraventricular hemorrhage followed by multi-organ failure. MSD was caused by a homozygous SUMF1 stop mutation (c.191C>A, p.Ser64Ter). FGE protein and sulfatase activities were absent in patient fibroblasts. Hydrops fetalis is a rare symptom of LSDs and should be considered in the differential diagnosis in combination with dysmorphism. The diagnostic set up should include measurements of glycosaminoglycan excretion and lysosomal enzyme activities, among them at least two sulfatases, and molecular confirmation.
Erscheinungsjahr
2019
Zeitschriftentitel
JIMD reports
Band
49
Ausgabe
1
ISSN
2192-8304
eISSN
2192-8312
Page URI
https://pub.uni-bielefeld.de/record/2937586

Zitieren

Schlotawa L, Dierks T, Christoph S, et al. Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient. JIMD reports. 2019;49(1).
Schlotawa, L., Dierks, T., Christoph, S., Cloppenburg, E., Ohlenbusch, A., Korenke, G. C., & Gartner, J. (2019). Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient. JIMD reports, 49(1). doi:10.1002/jmd2.12074
Schlotawa, L., Dierks, T., Christoph, S., Cloppenburg, E., Ohlenbusch, A., Korenke, G. C., and Gartner, J. (2019). Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient. JIMD reports 49.
Schlotawa, L., et al., 2019. Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient. JIMD reports, 49(1).
L. Schlotawa, et al., “Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.”, JIMD reports, vol. 49, 2019.
Schlotawa, L., Dierks, T., Christoph, S., Cloppenburg, E., Ohlenbusch, A., Korenke, G.C., Gartner, J.: Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient. JIMD reports. 49, (2019).
Schlotawa, Lars, Dierks, Thomas, Christoph, Sophie, Cloppenburg, Eva, Ohlenbusch, Andreas, Korenke, G Christoph, and Gartner, Jutta. “Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient.”. JIMD reports 49.1 (2019).

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