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Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency.

Abstract：

:We treated a female patient with West syndrome caused by thiamine-responsive pyruvate dehydrogenase complex (PDHC) deficiency. Infantile spasms occurred in association with elevated blood and CSF lactate concentrations; these symptoms disappeared when lactate concentrations had been lowered by treatment with concomitant sodium dichloroacetate (DCA) and high dose thiamine. Sequencing the patient's PDHC E(1)alpha subunit revealed a substitution of serine for glycine at position 89 in exon 3 (G89S). This mutation must be a de novo mutation because it was not found in either parents' genome DNA. To our knowledge, five previously described patients with PDHC deficiency have displayed the West syndrome. All six known patients, including our own, were female, even though an approximately equal number of males and females have been identified with PDHC deficiency and overall West syndrome occurs somewhat more frequently in males. These results indicated that West syndrome occurred more frequently in female patients with PDHC deficiency. It is suggested that lactate concentration should be measured in patients with West syndrome for potential PDHC deficiency, especially in females.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Naito E,Ito M,Yokota I,Saijo T,Chen S,Maehara M,Kuroda Y

doi

10.1016/s0022-510x(99)00250-6

subject

Has Abstract

pub_date

1999-12-01 00:00:00

pages

56-9

issue

1

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(99)00250-6

journal_volume

171

pub_type

杂志文章,评审

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