Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with a neonatal lactic acidemia
Studies of human pyruvate dehydrogenase (PDH) deficiency have shown that defects in the E1 component are not common, with only a small number of defects associated specifically with the E3, E2, and component X subunits. We report here clinical, enzymatic, and immune studies of the PDH complex (PDHc)...
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| Veröffentlicht in: | Pediatrics (Evanston) 1996-02, Vol.97 (2), p.267-272 |
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| creator | GEOFFROY, V FOUQUE, F BENELLI, C POGGI, F SAUDUBRAY, J. M LISSENS, W MEIRLEIR, L. D MARSAC, C LINDSAY, J. G SANDERSON, S. J |
| description | Studies of human pyruvate dehydrogenase (PDH) deficiency have shown that defects in the E1 component are not common, with only a small number of defects associated specifically with the E3, E2, and component X subunits. We report here clinical, enzymatic, and immune studies of the PDH complex (PDHc) in a girl presenting with a primary defect in the component X. The patient, born from nonconsanguineous parents, presented with severe neonatal lactic acidosis, minor facial dysmorphia, and complete corpus callosum agenesis. The metabolic profile revealed marked hyperlactatemia and hyperpyruvic acidemia, with a normal lactate/pyruvate ratio and no detectable ketosis or hyperammonemia. The activity of total PDHc in cultured skin fibroblasts and in fresh mononuclear cells was markedly decreased by about 80% as compared with the controls and with the parents. |
| doi_str_mv | 10.1542/peds.97.2.267 |
| format | Article |
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Sudden death</subject><subject>Female</subject><subject>Fibroblasts</subject><subject>Genetic aspects</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Intensive care medicine</subject><subject>Lactic acidosis</subject><subject>Medical disorders</subject><subject>Medical sciences</subject><subject>Pediatrics</subject><subject>Pyruvate Dehydrogenase Complex Deficiency Disease - complications</subject><subject>Pyruvate Dehydrogenase Complex Deficiency Disease - genetics</subject><subject>Pyruvate Dehydrogenase Complex Deficiency Disease - metabolism</subject><issn>0031-4005</issn><issn>1098-4275</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1996</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNptks-LEzEUx4Moa60ePQqDePCwU_Nj0swcl6qrUNiLgrfwmnnTZkmTMUl1e_FvN7NbFhZKDiHvffKS75cvIW8ZXTDZ8E8j9mnRqQVf8KV6RmaMdm3dcCWfkxmlgtUNpfIleZXSLaW0kYpfkItWto3oxIz8-4wDmlxZX-UdVr9qZ8dwdLUJPoP11m8rE_Zj8OhzFYZ7aDzGwx_IWPW4O_YxbNFDwnvO4d00CqoRsp2u_LV5V44eg4cMrnJgsjUVGNvj3sJr8mIAl_DNaZ-Tn1-__Fh9q9c3199XV-vaNLLNtULFlsOG9UsAWSpLZdTGAHIppJGDoUZIhYaj6UTR34imVUL2RjBgirdczMn7h7ljDL8PmLK-DYfoy5Oa81awbnJjTi4foC041NYPIUcwRR1GcMWBwZbyFWupoKJlBa_P4GVNysw5_uMTfrIY7_IWDinp9nr9BL08h5rgHG5RF2tWN-d-YmJIKeKgx2j3EI-aUT2FRE8h0Z3SXJeQFP7dyY3DZo_9I31KRel_OPUhGXBDBG9sesS4Yp0UTPwHsx7DdQ</recordid><startdate>19960201</startdate><enddate>19960201</enddate><creator>GEOFFROY, V</creator><creator>FOUQUE, F</creator><creator>BENELLI, C</creator><creator>POGGI, F</creator><creator>SAUDUBRAY, J. 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| ispartof | Pediatrics (Evanston), 1996-02, Vol.97 (2), p.267-272 |
| issn | 0031-4005 1098-4275 |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Acidosis, Lactic - enzymology Anesthesia. Intensive care medicine. Transfusions. Cell therapy and gene therapy Biochemistry Biological and medical sciences Birth defects Blotting, Western Emergency and intensive care: neonates and children. Prematurity. Sudden death Female Fibroblasts Genetic aspects Humans Infant, Newborn Intensive care medicine Lactic acidosis Medical disorders Medical sciences Pediatrics Pyruvate Dehydrogenase Complex Deficiency Disease - complications Pyruvate Dehydrogenase Complex Deficiency Disease - genetics Pyruvate Dehydrogenase Complex Deficiency Disease - metabolism |
| title | Defect in the X-lipoyl-containing component of the pyruvate dehydrogenase complex in a patient with a neonatal lactic acidemia |
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