caa a22 4500 469044217 CHVBK 20180323132819.0 cr unu---uuuuu 170328e19921101xx s 000 0 eng 10.1007/BF01800220 doi (NATIONALLICENCE)springer-10.1007/BF01800220 Mutation of E1α gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein [Elektronische Daten] [M. Ito, A. Huq, E. Naito, T. Saijo, E. Takeda, Y. Kuroda] Summary: A mutation of an insertion of 4 bp in the gene for the α subunit of pyruvate dehydrogenase (E1α) was found in a female with pyruvate dehydrogenase deficiency due to the rapid degradation of α and β subunit proteins of pyruvate dehydrogenase. This mutation caused a frameshift that altered the amino acid sequence and created a premature stop codon. This 4-bp insertion has been found in an unrelated female patient with E1α deficiency. It is rare that the same mutation is found in unrelated patients with this rare inborn error of metabolism. Furthermore, short deletions or duplications in the E1α gene of patients with E1α deficiency have been found only in exons 10 and 11. These exons may be hot spots for the mutations by the recombinational processes. This patient was heterozygous for the normal and a mutant allele. However, in most of the cultured skin fibroblasts from this patient, the mutant allele was expressed. These observations suggest that the X chromosome containing the normal allele was predominantly inactivated so that she developed lactic acidaemia and neurological abnormalities despite being heterozygous. The mutant α subunit protein failed to form a stable structure of pyruvate dehydrogenase, so that both α and β subunit proteins were degraded rapidly. SSIEM and Kluwer Academic Publishers, 1992 Ito M. Department of Pediatrics, School of Medicine, University of Tokushima, Kuramotocho 3, 770, Tokushima, Japan aut Huq A. Department of Pediatrics, School of Medicine, University of Tokushima, Kuramotocho 3, 770, Tokushima, Japan aut Naito E. Department of Pediatrics, School of Medicine, University of Tokushima, Kuramotocho 3, 770, Tokushima, Japan aut Saijo T. Department of Pediatrics, School of Medicine, University of Tokushima, Kuramotocho 3, 770, Tokushima, Japan aut Takeda E. Department of Pediatrics, School of Medicine, University of Tokushima, Kuramotocho 3, 770, Tokushima, Japan aut Kuroda Y. Department of Pediatrics, School of Medicine, University of Tokushima, Kuramotocho 3, 770, Tokushima, Japan aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/6(1992-11-01), 848-856 0141-8955 15:6<848 1992 15 10545 https://doi.org/10.1007/BF01800220 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01800220 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Ito M. Department of Pediatrics, School of Medicine, University of Tokushima, Kuramotocho 3, 770, Tokushima, Japan aut NATIONALLICENCE 700 1- Huq A. Department of Pediatrics, School of Medicine, University of Tokushima, Kuramotocho 3, 770, Tokushima, Japan aut NATIONALLICENCE 700 1- Naito E. Department of Pediatrics, School of Medicine, University of Tokushima, Kuramotocho 3, 770, Tokushima, Japan aut NATIONALLICENCE 700 1- Saijo T. Department of Pediatrics, School of Medicine, University of Tokushima, Kuramotocho 3, 770, Tokushima, Japan aut NATIONALLICENCE 700 1- Takeda E. Department of Pediatrics, School of Medicine, University of Tokushima, Kuramotocho 3, 770, Tokushima, Japan aut NATIONALLICENCE 700 1- Kuroda Y. Department of Pediatrics, School of Medicine, University of Tokushima, Kuramotocho 3, 770, Tokushima, Japan aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/6(1992-11-01), 848-856 0141-8955 15:6<848 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer