Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency.
We report a new patient with acetoacetyl-CoA thiolase deficiency in whom we found two new missense mutations.
Mrázová
L
L
Institute of Inherited Metabolic Diseases, General Faculty Hospital & Charles University 1st Faculty of Medicine, Prague, Czech Republic. LMRAZ@LF1.CUNI.CZ
Fukao
T
T
Hálovd
K
K
Gregová
E
E
Kohút
V
V
Pribyl
D
D
Chrastina
P
P
Kondo
N
N
Pospisilová
E
E
D000101:Acetyl-CoA C-Acetyltransferase / Q000172:deficiency / Q000235:genetics*; D002675:Child, Preschool; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D008928:Mitochondria / Q000201:enzymology*; D020125:Mutation, Missense
D000101:Acetyl-CoA C-Acetyltransferase