Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency
Objective: To report the first prenatal dopaminergic replacement therapy in autosomal recessive (AR) guanosine triphosphate cyclohydrolase 1 (GTPCH) deficiency without hyperphenylalaninemia.<h3>Design</h3>Case reports, literature review, and video presentation. Setting: University of Lü...
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| Main Authors: | , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
April 2, 2012
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| In: |
Archives of neurology
Year: 2012, Volume: 69, Issue: 8, Pages: 1071-1075 |
| ISSN: | 1538-3687 |
| DOI: | 10.1001/archneurol.2012.104 |
| Online Access: | Verlag, kostenfrei, Volltext: http://dx.doi.org/10.1001/archneurol.2012.104 Verlag, kostenfrei, Volltext: https://jamanetwork.com/journals/jamaneurology/fullarticle/1151838 
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| Author Notes: | Norbert Brüggemann, Juliane Spiegler, Yorck Hellenbroich, Thomas Opladen, Susanne A. Schneider, Ulrich Stephani, Rainer Boor, Gabriele Gillessen-Kaesbach, Jürgen Sperner, Christine Klein |
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| 245 | 1 | 0 | |a Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency |c Norbert Brüggemann, Juliane Spiegler, Yorck Hellenbroich, Thomas Opladen, Susanne A. Schneider, Ulrich Stephani, Rainer Boor, Gabriele Gillessen-Kaesbach, Jürgen Sperner, Christine Klein |
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| 520 | |a Objective: To report the first prenatal dopaminergic replacement therapy in autosomal recessive (AR) guanosine triphosphate cyclohydrolase 1 (GTPCH) deficiency without hyperphenylalaninemia.<h3>Design</h3>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. | ||
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