1. Levodopa-responsive aromatic<scp>L</scp>-amino acid decarboxylase deficiency
- Author
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J. Lawrence Marsh, Radhakant Sharma, C. Brautigam, Keith Hyland, Yuh Terng Chang, Georg F. Hoffmann, John Douglas Mcpherson, Joey A. Bedell, and Andreas Knust
- Subjects
chemistry.chemical_classification ,Levodopa ,Aromatic L-amino acid decarboxylase ,Mutation ,Carboxy-lyases ,Chemistry ,Point mutation ,medicine.disease_cause ,Molecular biology ,Exon ,Enzyme ,Neurology ,Biochemistry ,Carbidopa ,medicine ,Neurology (clinical) ,medicine.drug - 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 GA) 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. Ann Neurol 2004
- Published
- 2004
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