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

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

Author information

1
Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck, Germany.

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.

PMID:
22473768
DOI:
10.1001/archneurol.2012.104
[Indexed for MEDLINE]

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