Di Donato S, Rimoldi M, Garavaglia B, Uziel G
Clin Chim Acta. 1984 May 16;139(1):13-21. doi: 10.1016/0009-8981(84)90187-6.
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.
两名丙酸血症（PA）患者和两名甲基丙二酸尿症（MMA）患者血浆游离肉碱水平低，短链酰基肉碱水平升高。游离肉碱的尿排泄减少，而短链酰基肉碱（主要是丙酰肉碱）的排泄增加。补充肉碱显著增加了血浆和尿液中的短链酰基肉碱组分。从两名患者获取的骨骼肌活检标本中总肉碱含量降低。提示在这些有机酸尿症中，由游离肉碱和过量丙酰辅酶A形成的线粒体丙酰肉碱与游离胞质肉碱进行交换：然后丙酰肉碱经尿液丢失，导致组织中继发性肉碱缺乏。
