Literature DB >> 6723070

Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency.

S Di Donato, M Rimoldi, B Garavaglia, G Uziel.   

Abstract

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.

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Year:  1984        PMID： 6723070     DOI： 10.1016/0009-8981(84)90187-6

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  19 in total

1.  Oxidative stress parameters in urine from patients with disorders of propionate metabolism: a beneficial effect of L:-carnitine supplementation.

Authors:  Graziela S Ribas; Giovana B Biancini; Caroline Mescka; Carlos Y Wayhs; Angela Sitta; Moacir Wajner; Carmen R Vargas
Journal:  Cell Mol Neurobiol       Date:  2011-07-22       Impact factor: 5.046

Review 2.  Acute management of propionic acidemia.

Authors:  Kimberly A Chapman; Andrea Gropman; Erin MacLeod; Kathy Stagni; Marshall L Summar; Keiko Ueda; Nicholas Ah Mew; Jill Franks; Eddie Island; Dietrich Matern; Loren Pena; Brittany Smith; V Reid Sutton; Tiina Urv; Charles Venditti; Anupam Chakrapani
Journal:  Mol Genet Metab       Date:  2011-09-24       Impact factor: 4.797

Review 3.  Nutrition therapy of organic acidaemias with amino acid-based formulas: emphasis on methylmalonic and propionic acidaemia.

Authors:  Steven Yannicelli
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

4.  Direct identification of propionylcarnitine in propionic acidaemia: biochemical and clinical results of oral carnitine supplementation.

Authors:  M Duran; D Ketting; T E Beckeringh; D Leupold; S K Wadman
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

Review 5.  L-Carnitine.

Authors:  J H Walter
Journal:  Arch Dis Child       Date:  1996-06       Impact factor: 3.791

6.  The importance of recognizing secondary carnitine deficiency in organic acidaemias: case report in glutaric acidaemia type II.

Authors:  H Mandel; D Africk; M Blitzer; E Shapira
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

7.  Carnitine metabolism in the vitamin B-12-deficient rat.

Authors:  E P Brass; S P Stabler
Journal:  Biochem J       Date:  1988-10-01       Impact factor: 3.857

8.  Inhibition of oxidative metabolism by propionic acid and its reversal by carnitine in isolated rat hepatocytes.

Authors:  E P Brass; P V Fennessey; L V Miller
Journal:  Biochem J       Date:  1986-05-15       Impact factor: 3.857

Review 9.  l-Carnitine. A preliminary review of its pharmacokinetics, and its therapeutic use in ischaemic cardiac disease and primary and secondary carnitine deficiencies in relationship to its role in fatty acid metabolism.

Authors:  K L Goa; R N Brogden
Journal:  Drugs       Date:  1987-07       Impact factor: 9.546

Review 10.  Methylmalonic and propionic acidemias: clinical management update.

Authors:  Jamie L Fraser; Charles P Venditti
Journal:  Curr Opin Pediatr       Date:  2016-12       Impact factor: 2.856
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