{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T08:40:51Z","timestamp":1778834451122,"version":"3.51.4"},"reference-count":40,"publisher":"Wiley","issue":"S1","license":[{"start":{"date-parts":[[1984,3,1]],"date-time":"1984-03-01T00:00:00Z","timestamp":446947200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1984,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Congenital childhood lactic acidaemia is a poorly understood group of genetic diseases. The most common underlying inherited defect encountered in this group is deficiency of the pyruvate dehydrogenase complex. Of 23 cases we have diagnosed, 18 have a deficiency in the first component of the complex, the E<jats:sub>1<\/jats:sub> decarboxylase, while the other five have multiple<jats:italic>\u03b1<\/jats:italic>\u2010keto acid dehydrogenase deficiency due to a defect in lipoamide dehydrogenase. In addition to the lactic acidosis associated with pyruvate decarboxylase deficiency, ten of the cases showed evidence of facial dysmorphism consisting of a narrow head, wide nasal bridge and flared nostrils or gross microcephaly. Two further patients had agenesis of the corpus callosum. Isolated pyruvate carboxylase deficiency was found to present in two different forms, one with lactic acidaemia and mental retardation, the other with lactic acidaemia, hyperammonaemia citrullinaemia and hyperlysinaemia. The former presentation we have shown to be associated with the presence of a biotinylated pyruvate carboxylase protein of the correct subunit molecular weight (125 kd) which has no catalytic activity (CRM + ve). The latter we have shown to be associated with the absence of any recognizable pyruvate carboxylase protein (CRM \u2010 ve).<\/jats:p>","DOI":"10.1007\/bf03047378","type":"journal-article","created":{"date-parts":[[2009,6,25]],"date-time":"2009-06-25T03:36:15Z","timestamp":1245900975000},"page":"69-73","source":"Crossref","is-referenced-by-count":55,"title":["Lactic acidaemia"],"prefix":"10.1002","volume":"7","author":[{"given":"B. H.","family":"Robinson","sequence":"first","affiliation":[{"name":"Research Institute The Hospital for Sick Children  555 University Avenue Toronto Ontario M5G 1X8 Canada"},{"name":"the Departments of Pediatrics and Biochemistry University of Toronto  Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. G.","family":"Sherwood","sequence":"additional","affiliation":[{"name":"Research Institute The Hospital for Sick Children  555 University Avenue Toronto Ontario M5G 1X8 Canada"},{"name":"the Departments of Pediatrics and Biochemistry University of Toronto  Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1984,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197901000-00009"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(78)90255-3"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03047379"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106251"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1971.00490050083007"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(71)91822-8"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197608000-00002"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.79.10.3300"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"914","DOI":"10.1542\/peds.68.6.914a","article-title":"Secondary citrullinemia with hyperammonemia in four neonatal cases of pyruvate carboxylase deficiency","volume":"68","author":"Coude F. X.","year":"1981","journal-title":"Pediatrics"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(74)80006-2"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-45-6-1281"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410060605"},{"key":"e_1_2_1_14_1","first-page":"423","article-title":"Pyruvate decarboxylase deficiency in a patient with subacute necrotising encephalomyelopathy","volume":"23","author":"Farmer T. W.","year":"1973","journal-title":"Neurology"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.803713"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198104001-00741"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02263589"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442325"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.64.1.227"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1982.tb09393.x"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(75)80185-9"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.26.7.625"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/0968-0004(82)90209-2"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1042\/bst0110623"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)32463-3"},{"key":"e_1_2_1_26_1","unstructured":"Robinson B. H. Oei J. Sherwood W. G. Applegarth D. Wong L. Haworth J. Goodyer P. Casey R.andZaleski L. A.The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency.Am. J. Hum. Genet.Accepted for publication (1984)."},{"key":"e_1_2_1_27_1","first-page":"935","article-title":"Pyruvate dehydrogenase phosphatase deficiency. A cause of chronic congenital lacticacidosis in infancy","volume":"9","author":"Robinson B. H.","year":"1975","journal-title":"Pediatr. Res."},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1159\/000241010"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441651"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441708"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197712000-00006"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198008000-00013"},{"key":"e_1_2_1_33_1","first-page":"717","article-title":"Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings","volume":"65","author":"Saudubray J. M.","year":"1976","journal-title":"Acta Pediatr. Scand."},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI109632"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.5.555"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197601000-00012"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197801000-00018"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198206000-00006"},{"key":"e_1_2_1_39_1","first-page":"405","article-title":"Thiamine dependency in a patient with congenital lacticacidemia due to pyruvate dehydrogenase deficiency","volume":"1","author":"Wick H.","year":"1978","journal-title":"Agents Actions"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(69)80156-0"},{"key":"e_1_2_1_41_1","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1542\/peds.60.6.850","article-title":"Leigh's encephalomyopathy in a patient with cytochrome C oxidase deficiency of muscle tissue","volume":"60","author":"Willems J. L.","year":"1977","journal-title":"Pediatrics"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF03047378","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF03047378","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T00:33:06Z","timestamp":1694824386000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF03047378"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,3]]},"references-count":40,"journal-issue":{"issue":"S1","published-print":{"date-parts":[[1984,3]]}},"alternative-id":["10.1007\/BF03047378"],"URL":"https:\/\/doi.org\/10.1007\/bf03047378","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,3]]}}}