caa a22 4500 469044721 CHVBK 20180323132821.0 cr unu---uuuuu 170328e19920701xx s 000 0 eng 10.1007/BF01799619 doi (NATIONALLICENCE)springer-10.1007/BF01799619 Brown G. Genetics Laboratory, Department of Biochemistry, University of Oxford, South Parks Road, PCOX1 3QU, Oxford, UK aut Pyruvate dehydrogenase E1α deficiency [Elektronische Daten] [G. Brown] Summary: Pyruvate dehydrogenase (PDH) deficiency has long been recognized as the most common defined cause of primary lactic acidosis in infancy and early childhood. More recently, it has also been described in patients with subacute/chronic neurodegenerative disease without significant metabolic acidosis. The great majority of cases of PDH deficiency result from a genetic defect in the E1α subunit of the complex. PDH E1α deficiency is an X-linked inborn error of metabolism in which a high proportion of heterozygous females manifest the condition. In this review of 29 patients with PDH E1α deficiency, particular emphasis is given to those aspects of the disorder which are specifically related to the X chromosome location of the PDH E1α gene. These include the broad spectrum of clinical presentations and problems of diagnosis, especially antenatal diagnosis, in females. SSIEM and Kluwer Academic Publishers, 1992 Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 625-633 0141-8955 15:4<625 1992 15 10545 https://doi.org/10.1007/BF01799619 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF01799619 text/html Onlinezugriff via DOI NATIONALLICENCE 100 1- Brown G. Genetics Laboratory, Department of Biochemistry, University of Oxford, South Parks Road, PCOX1 3QU, Oxford, UK aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 15/4(1992-07-01), 625-633 0141-8955 15:4<625 1992 15 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer