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Comparative Study
. 2004 Mar;55(3):435-8.
doi: 10.1002/ana.20055.

Levodopa-responsive aromatic L-amino acid decarboxylase deficiency

Yuh Terng Chang  1 , Radhakant Sharma, J Lawrence Marsh, John D McPherson, Joey A Bedell, Andreas Knust, Christa Bräutigam, Georg F Hoffmann, Keith Hyland
Affiliations
Comparative Study

Levodopa-responsive aromatic L-amino acid decarboxylase deficiency

Yuh Terng Chang et al. Ann Neurol. 2004 Mar.

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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