A case of 2-methylacetoacetyl CoA thiolase deficiency with coincidental chromosome abnormalities.
D000101:Acetyl-CoA C-Acetyltransferase / Q000172:deficiency*; D000123:Acetyltransferases / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D009030:Mosaicism; D012729:Sex Chromosome Aberrations / Q000201:enzymology*; D014424:Turner Syndrome / Q000201:enzymology / Q000235:genetics; D014960:X Chromosome
D000123:Acetyltransferases; D000101:Acetyl-CoA C-Acetyltransferase