Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency

Norbert Brüggemann, Juliane Spiegler, Yorck Hellenbroich, Thomas Opladen, Susanne A. Schneider, Ulrich Stephani, Rainer Boor, Gabriele Gillessen-Kaesbach, Jürgen Sperner, Christine Klein*

*Corresponding author for this work
16 Citations (Scopus)

Abstract

Objective: To report the first prenatal dopaminergic replacement therapy in autosomal recessive (AR) guanosine triphosphate cyclohydrolase 1 (GTPCH) deficiency without hyperphenylalaninemia. 

Design : Case reports, literature review, and video presentation. 

Setting: University of Lübeck, Lübeck, Germany. 

Patients: Two boys from a consanguineous family. 

Main Outcome Measures: Physical and mental development as a function of replacement initiation. 

Results: The older sibling presented with typical features of AR GTPCH deficiency due to a homozygous mutation in the GCH1 gene with proven pathogenicity. Levodopa treatment was initiated at age 10 months and resulted in a distinct motor improvement. However, mental development was delayed. In the younger sibling, prenatal replacement therapy was initiated after a prenatal diagnosis of AR GTPCH deficiency was made. At age 17 months, both motor and mental development were normal for his age. 

Conclusions: This report highlights the importance of an early diagnosis, including prenatal diagnosis, of complex dopa-responsive extrapyramidal syndromes. Prenatally initiated dopaminergic replacement therapy is beneficial and thus justified in AR GTPCH deficiency, allowing prevention of significant impairment of mental abilities.

Original languageEnglish
JournalArchives of Neurology
Volume69
Issue number8
Pages (from-to)1071-1075
Number of pages5
ISSN0003-9942
DOIs
Publication statusPublished - 01.08.2012

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