TY - JOUR
T1 - In vitro analysis of hepatic carnitine biosynthesis in human systemic carnitine deficiency
AU - Rebouche, Charles J.
AU - Engel, Andrew G.
N1 - Funding Information:
This work was supported by a Research Center Grant from the Muscular Dystrophy Association and NIH Grant NS 6277.
PY - 1980
Y1 - 1980
N2 - The syndrome of systemic carnitine deficiency (progressive muscle weakness, recurrent metabolic encephalopathy, low liver and muscle and fluctuating serum carnitine levels) has been attributed to a defect of carnitine biosynthesis. We determined activities in liver of the four enzymes which convert ϵ-N-trimethyl-l-lysine to l-carnitine in three patients with systemic carnitine deficiency and in 12 control subjects. In the three patients all enzyme activities were within the normal range except one, which was slightly below the normal range. We conclude that in systemic carnitine deficiency no enzymatic defect exists in the conversion of ϵ-N-trimethyl-l-lysine to carnitine.
AB - The syndrome of systemic carnitine deficiency (progressive muscle weakness, recurrent metabolic encephalopathy, low liver and muscle and fluctuating serum carnitine levels) has been attributed to a defect of carnitine biosynthesis. We determined activities in liver of the four enzymes which convert ϵ-N-trimethyl-l-lysine to l-carnitine in three patients with systemic carnitine deficiency and in 12 control subjects. In the three patients all enzyme activities were within the normal range except one, which was slightly below the normal range. We conclude that in systemic carnitine deficiency no enzymatic defect exists in the conversion of ϵ-N-trimethyl-l-lysine to carnitine.
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U2 - 10.1016/0009-8981(80)90313-7
DO - 10.1016/0009-8981(80)90313-7
M3 - Article
C2 - 7418229
AN - SCOPUS:0018894759
VL - 106
SP - 295
EP - 300
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
SN - 0009-8981
IS - 3
ER -