Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Gibson
K M
KM
Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, Dallas, TX.
Cassidy
S B
SB
Seaver
L H
LH
Wanders
R J
RJ
Kennaway
N G
NG
Mitchell
G A
GA
Spark
R P
RP
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications* / Q000473:pathology; D002311:Cardiomyopathy, Dilated / Q000201:enzymology / Q000209:etiology* / Q000473:pathology; D017809:Fatal Outcome; D008401:Gas Chromatography-Mass Spectrometry; D006352:Heart Ventricles / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D007652:Oxo-Acid-Lyases / Q000172:deficiency*
D007652:Oxo-Acid-Lyases; C021410:3-hydroxy-3-methylglutaryl-coenzyme A lyase