Cited by 712Open Access
University of California, Irvine
Publishes on Polyamine Metabolism and Applications, Amino Acid Enzymes and Metabolism, Advanced biosensing and bioanalysis techniques. 9 papers and 916 citations.
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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.