Congestive cardiomyopathy associated with beta-ketothiolase deficiency

J Pediatr. 1981 Nov;99(5):754-7. doi: 10.1016/s0022-3476(81)80404-0.
No abstract available

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acetyl-CoA C-Acyltransferase / deficiency*
  • Acyltransferases / deficiency*
  • Cardiomyopathies / complications*
  • Cardiomyopathies / physiopathology
  • Child
  • Echocardiography
  • Fatty Acids / metabolism
  • Female
  • Heart Failure / complications*
  • Humans
  • Isoleucine / metabolism
  • Mitochondria, Heart / enzymology

Substances

  • Fatty Acids
  • Isoleucine
  • Acyltransferases
  • Acetyl-CoA C-Acyltransferase