Beneficial Prenatal Levodopa Therapy in Autosomal Recessive Guanosine Triphosphate Cyclohydrolase 1 Deficiency
JAMA Neurology, 05/01/2012
Bruggemann N et al. – The 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 autosomal recessive (AR) guanosine triphosphate cyclohydrolase 1 (GTPCH) deficiency, allowing prevention of significant impairment of mental abilities.