Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents.
Brivet
M
M
Laboratoire de Biochimie, Hopital de Bicêtre, Le Kremlin-Bicetre, France.
Slama
A
A
Millington
D S
DS
Roe
C R
CR
Demaugre
F
F
Legrand
A
A
Boutron
A
A
Poggi
F
F
Saudubray
J M
JM
D000215:Acylation; D002331:Carnitine / Q000032:analysis* / Q000378:metabolism; D002333:Carnitine Acyltransferases / Q000172:deficiency*; D002334:Carnitine O-Palmitoyltransferase / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D006801:Humans; D007223:Infant; D007425:Intracellular Membranes / Q000378:metabolism; D008214:Lymphocytes / Q000201:enzymology; D008297:Male; D008928:Mitochondria / Q000378:metabolism; D012189:Retrospective Studies
D002333:Carnitine Acyltransferases; D002334:Carnitine O-Palmitoyltransferase; D002331:Carnitine