期刊
ANNALS OF NEUROLOGY
卷 55, 期 3, 页码 435-438出版社
WILEY
DOI: 10.1002/ana.20055
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资金
- NICHD NIH HHS [R01 HD 36049, R01 HD 36081] Funding Source: Medline
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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