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Direct identification of propionylcarnitine in propionic acidaemia: Biochemical and clinical results of oral carnitine supplementation
Author(s) -
Duran M.,
Ketting D.,
Beckeringh T. E.,
Leupold D.,
Wadman S. K.
Publication year - 1986
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01799460
Subject(s) - carnitine , urinary system , excretion , chemistry , medicine , urine , endocrinology , acetylcarnitine , chromatography
Abstract Urinary short‐chain acylcarnitine in a patient with propionic acidaemia and low levels of free carnitine was found to consist mainly of propionylcarnitine. The compound was isolated by sequential paper and thin layer chromatography and identified by ammonia desorption chemical ionization mass spectrometry. Treatment of the patient with oral carnitine supplements led to a near‐normalization of the plasma free carnitine concentrations and an increase in his muscle tone. The propionylcarnitine excretion rose and there was a simultaneous decrease in the methylcitrate output. Carnitine treatment did not prevent the occurrence of an episode of metabolic decompensation.