Clinicopathologic conference: Barth Syndrome.
A case of Barth Syndrome is presented and discussed by both clinician and pathologist, in this traditional clinico-pathologic conference. The current understanding of etiology is included, including elevation of 3-methylglutaconic acid (3MGC).
Huhta
James C
JC
University of South Florida College of Medicine, Tampa, 33606, USA.
Pomerance
Herbert H
HH
Barness
Enid Gilbert
EG
D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology*; D000217:Acyltransferases; D000293:Adolescent; D009202:Cardiomyopathies / Q000209:etiology / Q000235:genetics / Q000503:physiopathology*; D002331:Carnitine / Q000172:deficiency; D003937:Diagnosis, Differential; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000172:deficiency; D020388:Muscular Dystrophy, Duchenne; D011506:Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
D011506:Proteins; D014157:Transcription Factors; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D000217:Acyltransferases; C108675:TAFAZZIN protein, human; D002331:Carnitine