Carnitine Palmitoyltransferase Deficiency: An Underdiagnosed Condition?

1996 ◽  
Vol 16 (2) ◽  
pp. 162-166 ◽  
Author(s):  
Ze’ev Katzir ◽  
Bernardo Hochman ◽  
Alexander Biro ◽  
Dvora I. Rubinger ◽  
Dan Feigel ◽  
...  
Keyword(s):  
Carnitine Palmitoyltransferase ◽  
Carnitine Palmitoyltransferase Deficiency

Increased serum lactate dehydrogenase isoenzyme 1 and "flipped" LD-1/LD-2 ratio in myopathy associated with partial carnitine palmitoyltransferase deficiency.

1987 ◽  
Vol 33 (11) ◽  
pp. 2111-2113 ◽  
Author(s):  
G C Moses ◽  
A R Henderson
Keyword(s):  
Creatine Kinase ◽  
Lactate Dehydrogenase ◽  
Serum Lactate ◽  
Creatine Kinase Activity ◽  
Carnitine Palmitoyltransferase ◽  
Serum Lactate Dehydrogenase ◽  
Physiological Basis ◽  
Carnitine Palmitoyltransferase Deficiency ◽  
Total Creatine Kinase Activity ◽  
Partial Deficiency

Abstract We describe a case of a limb-girdle myopathy presenting with myoglobinuria. A partial deficiency of muscle carnitine palmitoyltransferase (EC 2.3.1.21) may also have been present. All "muscle-type" serum enzymes were markedly increased (to between 30- and 400-fold their respective upper reference limits) and creatine kinase (EC 2.7.3.2) isoenzyme 2 (CK-MB) was increased 130-fold but was still less than 2% of the total creatine kinase activity. The isoenzyme pattern of lactate dehydrogenase (EC 1.1.1.27) in serum was "anodic," with isoenzyme 1 greater than isoenzyme 2--an unusual pattern for myopathies. The possible physiological basis for such a finding is discussed.

scholarly journals Carnitine palmitoyltransferase deficiency.

1988 ◽  
Vol 51 (9) ◽  
pp. 1242-1243
Author(s):  
L A Bindoff ◽  
H S Sherratt ◽  
R Singh ◽  
D M Turnbull
Keyword(s):  
Carnitine Palmitoyltransferase ◽  
Carnitine Palmitoyltransferase Deficiency

Malonyl-CoA Abnormal Inhibition of Residual Enzyme Activity in Carnitine Palmitoyltransferase Deficiency

1986 ◽  
Vol 25 (4) ◽  
pp. 309-316 ◽  
Author(s):  
Carlo P. Trevisan ◽  
Corrado Angelini ◽  
Antonio Fiorellini ◽  
Grazia Isaya ◽  
Graziella Zacchello
Keyword(s):  
Enzyme Activity ◽  
Carnitine Palmitoyltransferase ◽  
Residual Enzyme Activity ◽  
Malonyl Coa ◽  
Carnitine Palmitoyltransferase Deficiency

Clinical varieties of carnitine and carnitine palmitoyltransferase deficiency

1987 ◽  
Vol 20 (1) ◽  
pp. 1-7 ◽  
Author(s):  
C. Angelini ◽  
C. Trevisan ◽  
G. Isaya ◽  
G. Pegolo ◽  
L. Vergani
Keyword(s):  
Carnitine Palmitoyltransferase ◽  
Carnitine Palmitoyltransferase Deficiency
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