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Fatal cardiomyopathy associated with 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency
Author(s) -
Gibson K. M.,
Cassidy S. B.,
Seaver L. H.,
Wanders R. J. A.,
Kennaway N. G.,
Mitchell G. A.,
Spark R. P.
Publication year - 1994
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00711810
Subject(s) - center (category theory) , medicine , medical school , family medicine , gerontology , library science , medical education , chemistry , computer science , crystallography
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMG-CoA lyase; EC 4.1.3.4; McKusick 246450) is an inborn error of ketogenesis and L-leucine catabolism. HMG-CoA lyase catalyses the final step in leucine degradation, converting HMG-CoA to acetyl-CoA and acetoacetic acid. Clinical manifestations include hepatomegaly, lethargy and apnoea. Biochemically there is a characteristic absence of ketonuria with hypoglycaemia, acidosis and variable hyperammonaemia (Gibson et al 1988). The urinary organic acid profile includes elevated concentrations of 3-hydroxyisovaleric (3-HI[V), cis- and trans-3-methylglutaconic (3-MGC), 3-methylglutaric (3-MGR), and 3-hydroxy-3-methylglutaric (HMG) acids. Confirmatory enzyme diagnosis is made in cultured fibroblasts or leukocytes. In this report we describe a patient with HMG-CoA lyase deficiency who manifested a fatal arrhythmia associated with dilated cardiomyopathy, a clinical feature previously unreported in HMG-CoA lyase deficiency.