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Case Reports
. 2012 Aug;69(8):1071-5.
doi: 10.1001/archneurol.2012.104.

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

Norbert Brüggemann  1 , Juliane Spiegler, Yorck Hellenbroich, Thomas Opladen, Susanne A Schneider, Ulrich Stephani, Rainer Boor, Gabriele Gillessen-Kaesbach, Jürgen Sperner, Christine Klein
Affiliations
Case Reports

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

Norbert Brüggemann et al. Arch Neurol. 2012 Aug.

Erratum in

  • Arch Neurol. 2013 Sep 1;70(9):1201. Dosage error in article text

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.

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