Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism.
Burlina
A B
AB
Department of Pediatrics, University of Padova, Italy.
Gibson
K M
KM
Ruitenbeek
W
W
Bonafè
L
L
Bennett
M J
MJ
D000102:Acetyl-CoA C-Acyltransferase / Q000172:deficiency*; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology; D002478:Cells, Cultured; D003998:Dicarboxylic Acids / Q000652:urine; D004734:Energy Metabolism; D005347:Fibroblasts / Q000201:enzymology; D005650:Fumarates / Q000652:urine; D006801:Humans; D007223:Infant; D007532:Isoleucine / Q000378:metabolism*; D008293:Malates / Q000652:urine; D008297:Male; D019636:Neurodegenerative Diseases / Q000209:etiology*; D010641:Phenotype; D019802:Succinic Acid / Q000652:urine
D003998:Dicarboxylic Acids; D005650:Fumarates; D008293:Malates; D007532:Isoleucine; C030298:malic acid; C032005:fumaric acid; D019802:Succinic Acid; D000102:Acetyl-CoA C-Acyltransferase