TY - JOUR
T1 - A Deficiency of Carnitine–Acylcarnitine Translocase in the Inner Mitochondrial Membrane
AU - Stanley, Charles A.
AU - Hale, Daniel
AU - Berry, Gerard T.
AU - Deleeuw, Susan
AU - Boxer, Jay
AU - Bonnefont, Jean Paul
PY - 1992/7/2
Y1 - 1992/7/2
N2 - MITOCHONDRIAL oxidation of fatty acids provides the chief source of energy during prolonged fasting as well as for cardiac muscle and skeletal muscle during exercise. In the past decade, 10 genetic defects of this pathway have been recognized in infants and children.1 2 3 4 5 6 7 Although each of these disorders is rare, failure to recognize them can deprive patients of lifesaving therapy. Patients with these defects present with coma after a period of starvation and have hypoketosis — that is, their serum ketone concentrations are low. They may also have cardiomyopathy and muscle weakness. Three of the disorders affect the carnitine cycle, illustrated…
AB - MITOCHONDRIAL oxidation of fatty acids provides the chief source of energy during prolonged fasting as well as for cardiac muscle and skeletal muscle during exercise. In the past decade, 10 genetic defects of this pathway have been recognized in infants and children.1 2 3 4 5 6 7 Although each of these disorders is rare, failure to recognize them can deprive patients of lifesaving therapy. Patients with these defects present with coma after a period of starvation and have hypoketosis — that is, their serum ketone concentrations are low. They may also have cardiomyopathy and muscle weakness. Three of the disorders affect the carnitine cycle, illustrated…
UR - http://www.scopus.com/inward/record.url?scp=0026703357&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0026703357&partnerID=8YFLogxK
U2 - 10.1056/NEJM199207023270104
DO - 10.1056/NEJM199207023270104
M3 - Article
C2 - 1598097
AN - SCOPUS:0026703357
SN - 0028-4793
VL - 327
SP - 19
EP - 23
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 1
ER -