Succinyl-CoA:3-Ketoacid CoA-Transferase Deficiency

Experience and Reason| April 01 1998 Succinyl-CoA:3-Ketoacid CoA-Transferase Deficiency Selma E. Snyderman, MD; Selma E. Snyderman, MD Search for other works by this author on: This Site PubMed Google Scholar Claude Sansaricq, MD; Claude Sansaricq, MD Search for other works by this author on: This Site PubMed Google Scholar Bruce Middleton, PhD Bruce Middleton, PhD Search for other works by this author on: This Site PubMed Google Scholar Reprint requests to (S.E.S.) Department of Human Genetics, Box 1497, Mount Sinai Medical Center, Fifth Ave and 100th St, New York, NY 10029. Pediatrics (1998) 101 (4): 709–711. https://doi.org/10.1542/peds.101.4.709 Article history Received: January 28 1997 Accepted: July 17 1997 Views Icon Views Article contents Figures & tables Video Audio Supplementary Data Peer Review Share Icon Share Facebook Twitter LinkedIn MailTo Tools Icon Tools Get Permissions Cite Icon Cite Search Site Citation Selma E. Snyderman, Claude Sansaricq, Bruce Middleton; Succinyl-CoA:3-Ketoacid CoA-Transferase Deficiency. Pediatrics April 1998; 101 (4): 709–711. 10.1542/peds.101.4.709 Download citation file: Ris (Zotero) Reference Manager EasyBib Bookends Mendeley Papers EndNote RefWorks BibTex toolbar search toolbar search search input Search input auto suggest filter your search All PublicationsAll JournalsPediatricsHospital PediatricsPediatrics In ReviewNeoReviewsAAP Grand RoundsAAP NewsAll AAP Sites Search Advanced Search Topics: coenzyme a, coenzyme a-transferases, keto acids, acetyl-coa c-acetyltransferase, acetoacetates, urine Succinyl-CoA:3-ketoacid CoA-transferase (SCOT) deficiency is, apparently, a rare disorder. Only nine patients have been reported since it was first described in 1972. The patients have various ethnic backgrounds: northern European,1-4 African-American,5 Japanese,6 and African.7 This communication is to report a tenth patient from another far eastern country, Pakistan, and to suggest that this disease may not be very rare but rather is underdiagnosed. This infant's difficulties began in the newborn period. The pregnancy had been uneventful; the birth weight was 7 lb, 8 oz. He was readmitted to the hospital at 38 hours of age with a history of breathing difficulties since birth. He was lethargic and hypothermic; arterial blood gas determination revealed a pH of 7.16; the bicarbonate was 9.3, and there was a base deficit of −17.4. After correction of his acidosis he was started on a normal infant formula but became acidotic again.... You do not currently have access to this content.