Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy.
A patient diagnosed at 9 months with a milder form of propionic acidemia was functioning at a near normal intellectual level and a normal neurological level at age 8. After 2-week history of feeling "poorly" but functioning normally, she became acutely ill and succumbed to heart failure and ventricular fibrillation in 12 h. At post-mortem the heart was hypertrophied and had low carnitine levels, despite carnitine supplementation and repeatedly normal plasma carnitine levels. The findings in this patient provide a possible mechanism for the cardiac complications that are becoming more apparent in propionic acidemia.
Mardach
Rebecca
R
Regional Metabolic Center, Kaiser Permanente Medical Group, 4700 Sunset Boulevard, Los Angeles, CA 90027, USA. rebecca.r.mardach@kp.org
Verity
M Anthony
MA
Cederbaum
Stephen D
SD
D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000473:pathology*; D009202:Cardiomyopathies / Q000209:etiology / Q000473:pathology*; D002331:Carnitine / Q000032:analysis* / Q000172:deficiency; D002648:Child; D004562:Electrocardiography; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D018482:Muscle, Skeletal / Q000737:chemistry / Q000201:enzymology; D009206:Myocardium / Q000737:chemistry* / Q000201:enzymology; D011422:Propionates / Q000097:blood*
D011422:Propionates; D002331:Carnitine