Levodopa-Responsive Aromatic L-Amino Acid Decarboxylase Deficiency

Yuh Terng Chang, Radhakant Sharma, J. Lawrence Marsh, John Douglas Mcpherson, Joey A. Bedell, Andreas Knust, Christa Bräutigam, Georg F. Hoffmann, Keith Hyland

Research output: Contribution to journalArticle

33 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)435-438
Number of pages4
JournalAnnals of Neurology
Volume55
Issue number3
DOIs
StatePublished - Mar 2004
Externally publishedYes

ASJC Scopus subject areas

  • Neuroscience(all)

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    Chang, Y. T., Sharma, R., Marsh, J. L., Mcpherson, J. D., Bedell, J. A., Knust, A., Bräutigam, C., Hoffmann, G. F., & Hyland, K. (2004). Levodopa-Responsive Aromatic L-Amino Acid Decarboxylase Deficiency. Annals of Neurology, 55(3), 435-438. https://doi.org/10.1002/ana.20055