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Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups.

Publication ,  Journal Article
Roe, CR; Hoppel, CL; Stacey, TE; Chalmers, RA; Tracey, BM; Millington, DS
Published in: Arch Dis Child
November 1983

Patients with methylmalonic aciduria have an excessive intramitochondrial accumulation of acylcoenzyme A compounds that may reduce the availability of free coenzyme A (CoA) for normal metabolic requirements, producing profound metabolic disturbances. Giving carnitine to a patient with methylmalonic aciduria produced an increase in hippurate excretion (an index of intramitochondrial adenosine triphosphate (ATP) and CoA availability), a large increase in short chain urinary acylcarnitines, and a reduction in excretion of methylmalonate and methylcitrate. These acylcarnitines were shown by fast atom bombardment and B/E linked scan mass spectrometry to be propionylcarnitine and acetylcarnitine. Carnitine acts by removing (detoxifying) propionyl groups, thereby releasing CoA and restoring ATP biosynthesis and concentrations towards normal. L-carnitine may play a central role in maintenance of mitochondrial and cellular homoeostasis in methylmalonic aciduria and propionic acidaemia. These principles may provide an approach to the treatment of this and other disorders, inherited and acquired, in which accumulation of acyl CoA metabolites results in sequestration of free CoA, thereby perturbing metabolic homoeostasis.

Duke Scholars

Published In

Arch Dis Child

DOI

EISSN

1468-2044

Publication Date

November 1983

Volume

58

Issue

11

Start / End Page

916 / 920

Location

England

Related Subject Headings

  • Pediatrics
  • Methylmalonic Acid
  • Malonates
  • Infant
  • Humans
  • Female
  • Carnitine
  • Amino Acid Metabolism, Inborn Errors
  • Acetylcarnitine
  • 3213 Paediatrics
 

Citation

APA
Chicago
ICMJE
MLA
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Roe, C. R., Hoppel, C. L., Stacey, T. E., Chalmers, R. A., Tracey, B. M., & Millington, D. S. (1983). Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups. Arch Dis Child, 58(11), 916–920. https://doi.org/10.1136/adc.58.11.916
Roe, C. R., C. L. Hoppel, T. E. Stacey, R. A. Chalmers, B. M. Tracey, and D. S. Millington. “Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups.Arch Dis Child 58, no. 11 (November 1983): 916–20. https://doi.org/10.1136/adc.58.11.916.
Roe CR, Hoppel CL, Stacey TE, Chalmers RA, Tracey BM, Millington DS. Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups. Arch Dis Child. 1983 Nov;58(11):916–20.
Roe, C. R., et al. “Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups.Arch Dis Child, vol. 58, no. 11, Nov. 1983, pp. 916–20. Pubmed, doi:10.1136/adc.58.11.916.
Roe CR, Hoppel CL, Stacey TE, Chalmers RA, Tracey BM, Millington DS. Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups. Arch Dis Child. 1983 Nov;58(11):916–920.

Published In

Arch Dis Child

DOI

EISSN

1468-2044

Publication Date

November 1983

Volume

58

Issue

11

Start / End Page

916 / 920

Location

England

Related Subject Headings

  • Pediatrics
  • Methylmalonic Acid
  • Malonates
  • Infant
  • Humans
  • Female
  • Carnitine
  • Amino Acid Metabolism, Inborn Errors
  • Acetylcarnitine
  • 3213 Paediatrics