Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

J Inherit Metab Dis. 1994;17(3):291-4. doi: 10.1007/BF00711810.

Authors

K M Gibson¹, S B Cassidy, L H Seaver, R J Wanders, N G Kennaway, G A Mitchell, R P Spark

Affiliation

¹ Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, Dallas, TX.

PMID: 7807935
DOI: 10.1007/BF00711810

No abstract available

Publication types

Case Reports

MeSH terms

Amino Acid Metabolism, Inborn Errors / complications*
Amino Acid Metabolism, Inborn Errors / pathology
Cardiomyopathy, Dilated / enzymology
Cardiomyopathy, Dilated / etiology*
Cardiomyopathy, Dilated / pathology
Fatal Outcome
Gas Chromatography-Mass Spectrometry
Heart Ventricles / pathology
Humans
Infant
Male
Oxo-Acid-Lyases / deficiency*

Substances

Oxo-Acid-Lyases
3-hydroxy-3-methylglutaryl-coenzyme A lyase