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Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency.

Publication ,  Journal Article
Rutledge, SL; Berry, GT; Stanley, CA; van Hove, JL; Millington, D
Published in: J Inherit Metab Dis
1995

Genetic deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC) is a rare inborn error of leucine metabolism producing an organic acidaemia. With accumulation of 3-methylcrotonyl-CoA, there is increased production of 3-hydroxyisovaleric acid, the glycine conjugate (3-methylcrotonylglycine), and the carnitine conjugate (3-hydroxyisovalerylcarnitine). The conjugates represent endogenous detoxification products. We studied excretion rates of these conjugates at baseline and with glycine and carnitine therapy in an 8-year-old girl with 3-MCC deficiency. Her preadmission diet was continued. Plasma and urine samples were obtained after 24 h of each of the following: L-carnitine 100 mg/kg per day and glycine 100, 175 and 250 mg/kg per day. Plasma and urinary carnitine levels were reduced by 80% and 50%, respectively with abnormal urinary excretion patterns. These normalized with carnitine therapy. Acylcarnitine excretion increased with carnitine therapy. The glycine conjugate, 3-methylcrotonylglycine (3-MCG), was the major metabolite excreted at all times and its excretion increased with glycine therapy. Clearly, in 3-MCC deficiency the available glycine and carnitine pools are not sufficient to meet the potential for conjugation of accumulated metabolites, suggesting a possible therapeutic role for glycine and carnitine therapy in this disorder.

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Published In

J Inherit Metab Dis

DOI

ISSN

0141-8955

Publication Date

1995

Volume

18

Issue

3

Start / End Page

299 / 305

Location

United States

Related Subject Headings

  • Nutritional Status
  • Ligases
  • Humans
  • Glycine
  • Genetics & Heredity
  • Female
  • Diet, Protein-Restricted
  • Chromatography, Gas
  • Child
  • Carnitine
 

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Rutledge, S. L., Berry, G. T., Stanley, C. A., van Hove, J. L., & Millington, D. (1995). Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. J Inherit Metab Dis, 18(3), 299–305. https://doi.org/10.1007/BF00710419
Rutledge, S. L., G. T. Berry, C. A. Stanley, J. L. van Hove, and D. Millington. “Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency.J Inherit Metab Dis 18, no. 3 (1995): 299–305. https://doi.org/10.1007/BF00710419.
Rutledge SL, Berry GT, Stanley CA, van Hove JL, Millington D. Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. J Inherit Metab Dis. 1995;18(3):299–305.
Rutledge, S. L., et al. “Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency.J Inherit Metab Dis, vol. 18, no. 3, 1995, pp. 299–305. Pubmed, doi:10.1007/BF00710419.
Rutledge SL, Berry GT, Stanley CA, van Hove JL, Millington D. Glycine and L-carnitine therapy in 3-methylcrotonyl-CoA carboxylase deficiency. J Inherit Metab Dis. 1995;18(3):299–305.
Journal cover image

Published In

J Inherit Metab Dis

DOI

ISSN

0141-8955

Publication Date

1995

Volume

18

Issue

3

Start / End Page

299 / 305

Location

United States

Related Subject Headings

  • Nutritional Status
  • Ligases
  • Humans
  • Glycine
  • Genetics & Heredity
  • Female
  • Diet, Protein-Restricted
  • Chromatography, Gas
  • Child
  • Carnitine