Article
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.
Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Feb 2000
Hwu W L, Suzuki Y, Yang X, Li X, Chou S P, Narisawa K, Tsai W Y
Abstract excerpt
Holocarboxylase synthetase (HCS) is responsible for the biotinylation of pyruvate carboxylase, propionyl coenzyme A (CoA) carboxylase, beta-methylcrotonoyl CoA carboxylase, and acetyl CoA carboxylase. We report on a patient with HCS deficiency resulting in a rare metabolic disease. The patient, a 2-year-old boy, presented with vomiting, consciousness disturbance, and dyspnea. Laboratory examinations showed...
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