Levodopa-responsive aromatic L-amino acid decarboxylase deficiency

被引：39

作者：

Chang, YT

Sharma, R

Marsh, JL

McPherson, JD

Bedell, JA

Knust, A

Bräutigam, C

Hoffmann, GF

Hyland, K

机构：

[1] Baylor Univ, Med Ctr, Kimberly H Courtwright & Joseph W Summers Inst Me, Dallas, TX USA

[2] Univ Calif Irvine, Dept Dev & Cell Biol, Irvine, CA 92717 USA

[3] Univ Calif Irvine, Dept Biochem, Irvine, CA 92717 USA

[4] Childrens Hosp, Dept Neuropediat, Siegen, Germany

[5] Heidelberg Univ, Dept Gen Pediat, D-6900 Heidelberg, Germany

[6] Univ Texas, SW Med Ctr, Dept Neurol, Dallas, TX 75235 USA

来源：

ANNALS OF NEUROLOGY | 2004年 / 55卷 / 03期

关键词：

D O I：

10.1002/ana.20055

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：435 / 438

页数：4

共 18 条

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