Severe periodic febrile myalgia in infancy due to carnitine palmitoyltransferase deficiency
Child; Female; Humans; Q3 Literature Search; Carnitine O-Palmitoyltransferase/deficiency/metabolism; Fever/enzymology/etiology; Muscular Diseases/enzymology/etiology; Periodicity
A 7 1/2-yr-old girl suffered, since early infancy, severe recurrent myalgia during periodic attacks of fever, vomiting and pharyngitis. Neither myoglobinuria nor exercise-induced muscle pain was present. She was found to have carnitine palmitoyltransferase deficiency (CPTD) in leukocytes, fibroblasts and muscle. This case exemplifies the importance of looking for an associated metabolic etiology of recurrent febrile myalgia even in the absence of myoglobinuria.
1992
Schiffmann R; Lahat E; Schechter A
Neuromuscular Disorders
1992
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1016/0960-8966(92)90061-a" target="_blank" rel="noreferrer">10.1016/0960-8966(92)90061-a</a>
Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency
Child; Humans; Male; Preschool; Q3 Literature Search; Recurrence; Fatty Acids/metabolism; Lymphocytes/metabolism; Carnitine O-Palmitoyltransferase/deficiency/metabolism; Creatine Kinase/metabolism; Energy Intake; Liver/enzymology; Transaminases/metabolism
A 3-year-old boy had recurrent episodes of lethargy, encephalopathy, and hepatomegaly accompanied by hypoglycemia, elevated liver aminotransferase and creatine kinase values, and nonketotic dicarboxylic aciduria; the serum carnitine level was moderately reduced. Carnitine palmitoyltransferase II activity was decreased in lymphocytes and fibroblasts. Therapy with L-carnitine and a diet low in long-chain triglycerides did not prevent recurrent episodes.
1993
Elpeleg ON; Joseph A; Branski D; Christensen E; Holme E; Demaugre F; Saudubray JM; Gutman A
The Journal Of Pediatrics
1993
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1016/s0022-3476(09)90019-1" target="_blank" rel="noreferrer">10.1016/s0022-3476(09)90019-1</a>