TY - JOUR
T1 - Propionylcarnitine excretion in propionic and methylmalonic acidurias
T2 - a cause of carnitine deficiency
AU - Di Donato, S.
AU - Rimoldi, M.
AU - Garavaglia, B.
AU - Uziel, G.
PY - 1984/5/16
Y1 - 1984/5/16
N2 - Two patients with propionic acidemia (PA) and two patients with methylmalonic aciduria (MMA) had low plasma free carnitine and increased short-chain acylcarnitines. Urinary excretion of free carnitine was decreased, while the excretion of short-chain acylcarnitines, mostly propionylcarnitine, was increased. Carnitine supplementation markedly increased the short-chain acylcarnitine fractions of both plasma and urine. Total carnitine content was decreased in skeletal muscle biopsies obtained from two of the patients. It is suggested that in these organic acidurias mitochondrial propionylcarnitine, formed from free carnitine and excess propionylCoA, exchanges with free cytosolic carnitine: propionylcarnitine is then lost in the urine, causing secondary carnitine deficiency in the tissues.
AB - Two patients with propionic acidemia (PA) and two patients with methylmalonic aciduria (MMA) had low plasma free carnitine and increased short-chain acylcarnitines. Urinary excretion of free carnitine was decreased, while the excretion of short-chain acylcarnitines, mostly propionylcarnitine, was increased. Carnitine supplementation markedly increased the short-chain acylcarnitine fractions of both plasma and urine. Total carnitine content was decreased in skeletal muscle biopsies obtained from two of the patients. It is suggested that in these organic acidurias mitochondrial propionylcarnitine, formed from free carnitine and excess propionylCoA, exchanges with free cytosolic carnitine: propionylcarnitine is then lost in the urine, causing secondary carnitine deficiency in the tissues.
KW - Organic aciduria
KW - Propionylcarnitine
KW - Secondary carnitine deficiency
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U2 - 10.1016/0009-8981(84)90187-6
DO - 10.1016/0009-8981(84)90187-6
M3 - Article
C2 - 6723070
AN - SCOPUS:0021337412
VL - 139
SP - 13
EP - 21
JO - Clinica Chimica Acta
JF - Clinica Chimica Acta
SN - 0009-8981
IS - 1
ER -