Levodopa‐responsive aromatic <scp>L</scp>–amino acid decarboxylase deficiency
Yuh Terng Chang(Baylor University Medical Center), Radhakant Sharma(Baylor University Medical Center), J.Lawrence Marsh(University of California, Irvine), John D. McPherson(University of California, Irvine), Joey A. Bedell(University of California, Irvine), A. Knust, Christa Bräutigam(Heidelberg University), Georg F. Hoffmann(The University of Texas Southwestern Medical Center), Keith Hyland(Baylor University Medical Center)
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Abstract
We report three siblings, who were treated empirically with levodopa combined with carbidopa. There was an immediate therapeutic response. Biochemical investigation surprisingly showed the clinical phenotype to be caused by aromatic L-amino acid decarboxylase deficiency. Molecular characterization showed a homozygous point mutation (c.387 G-->A) in exon 3. Kinetic studies showed the mutation to decrease the binding affinity for the substrate. This, combined with structural modeling suggesting alteration of active site configuration, provided an explanation for the therapeutic response to levodopa.
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