Search PubMed⌕ Search
Home/Archive/PubMed

PubMed · 1327585

Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia.

M Ito·H Kobashi·E Naito·T Saijo·E Takeda·A H Huq·Y Kuroda
View original source ↗Export metadata ↓

Abstract

We developed an assay method for pyruvate dehydrogenase phosphatase activity using [1-14C]pyruvate and measured pyruvate dehydrogenase phosphatase activity in cultured skin fibroblasts from three patients with congenital lactic acidemia due to a defect in activation of the pyruvate dehydrogenase complex. The enzyme activity of their fibroblasts was significantly reduced to 50.7%, 64.6% and 63.1% of that of control fibroblasts. These observations suggest that the defect in activation of the pyruvate dehydrogenase complex in these patients might be due to a reduction in pyruvate dehydrogenase phosphatase activity.

Explore related subjects

Acidosis, LacticChildEnzyme ActivationFemaleFibroblastsHumansInfantMaleMitochondriaPregnancyPyruvate Dehydrogenase (Lipoamide)-PhosphatasePyruvatesPyruvic AcidCase ReportsJournal ArticleResearch Support, Non-U.S. Gov't

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

M Ito, H Kobashi, E Naito, T Saijo, E Takeda, A H Huq, Y Kuroda. 1992-07-31. Decrease of pyruvate dehydrogenase phosphatase activity in patients with congenital lactic acidemia.. https://doi.org/10.1016/0009-8981(92)90327-m

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2007

A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene.

We report two male Taiwanese siblings in whom the T-->C point mutation at nucleotide 9176 of the mitochondrial ATPase 6 gene (m.9176T>C mutation) was associated with early onset hypotonia, lactic acidosis, and death due to respiratory arrest at 7 and 10 months old. Brain MRI showed lesions over diffuse white matter and the bilateral posterior limbs of the internal capsule. The m.9176T>C mutation is suggested as the cause of the bilateral striatal necrosis and Leigh syndrome. However, leukodystrophy in Leigh syndrome associated with m.9176T>C mutation has never been reported before. We suggest that m.9176T>C mutation could be a new aetiology for leukodystrophy in children with Leigh syndrome.

Acidosis, Lactic↗
PubMed2007

Lactic acidosis in children with acute exacerbation of severe asthma.

This is a retrospective case series reporting lactic acidosis in four pediatric patients with acute severe asthma treated with nebulized beta2-agonists in a pediatric intensive care unit of a tertiary care teaching facility. During treatment with beta2-agonists, these patients developed lactic acidosis with a peak concentration of 5.2 to 13 mmol/l. Lactic acidosis improved within 24 h after discontinuation or decrease in the dosage of beta2-agonists. We conclude that the intensive use of beta2-agonists for acute severe asthma in children may be the primary and significant cause of lactic acidosis.

Acidosis, Lactic↗