Skip to main content
Log in

Dihydrolipoyl dehydrogenase deficiency: a therapeutic trial with branched-chain amino acid restriction

  • Original Investigations
  • Published:
European Journal of Pediatrics Aims and scope Submit manuscript

Abstract

A patient with a deficiency of dihydrolipoyl dehydrogenase and neurological disease is described. The patients was placed on a branched-chain amino acid-restricted regimen. After the introduction of the regimen, there were some biochemical improvements and he achieved some developmental milestones, in contrast to previously reported patients whose neurological disease was progressive. Restriction of the branched-chain amino acids is worth trying among therapeutic measures for this disease, although restriction of the amino acids alone may not totally prevent progression of neurological disease.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Blass JP, Avigan J, Uhlendorf BW (1970) A defect in pyruvate decarboxylase in a child with an intermittent movement disorder. J Clin Invest 49:423–432

    Google Scholar 

  2. Blass JP, Schulman JD, Young DS, Hom E (1972) An inherited defect affecting the tricarboxylic acid cycle in a patient with congenital lactic acidosis. J Clin Invest 51:1845–1851

    Google Scholar 

  3. Hayashi T, Tsuchiya H, Todoriki H, Naruse H (1982) High-performance liquid chromatographic determination of α-ketoacids in human urine and plasma. Anal Biochem 122:173–179

    Google Scholar 

  4. Kornberg A (1955) Lactate dehydrogenase of muscle. Methods Enzymol 1:441–443

    Google Scholar 

  5. Kuhara T, Shinka T, Inoue Y, Matsumoto M, Yoshino M, Sakaguchi Y, Matsumoto I (1983) Studies of organic acid profiles of a patient with dihydrolipoyl dehydrogenase deficiency. Clin Chim Acta 133:133–140

    Google Scholar 

  6. Matalon R, Stumpf DA, Kimberlee M, Hart RD, Parks JK, Goodman RI (1984) Lipoamide dehydrogenase deficiency with primary lactic acidosis: favourable response to treatment with oral lipoic acid. J Pediatr 104:65–69

    Google Scholar 

  7. Munnich A, Saudubray JM, Taylor J, Charpentier C, Marsac C, Rocchiccioli F, Amedee-Manesme O, Coude FX, Frezal J, Robinson BH (1982) Congenital lactic acidosis, α-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency. Acta Paediatr Scand 71:167–171

    Google Scholar 

  8. Reed LJ, Willms CR (1966) Purification and resolution of the pyruvate dehydrogenase complex (Escherichia coli). Methods Enzymol 9:247–265

    Google Scholar 

  9. Robinson BH, Taylor J, Sherwood WG (1977) Deficiency of dihydrolipoyl dehydrogenase (a component of the pyruvate and α-ketoglutarate dehydrogenase complexes): a cause of congenital chronic lactic acidosis in infancy. Pediatr Res 11:1198–1202

    Google Scholar 

  10. Robinson BH, Taylor J, Kahler SG, Kirkman HN (1981) Lactic acidemia, neurological deterioration and carbohydrate dependence in a girl with dihydrolipoyl dehydrogenase deficiency. Eur J Pediatr 136:35–39

    Google Scholar 

  11. Tabor J, Tabor H, Rosenthal SM (1954) Purification of amine oxidase from beef plasma. J Biol Chem 208:645–661

    Google Scholar 

  12. Tanaka K, Rosenberg LE (1982) Disorders of branched chain amino acid and organic acid metabolism. In: Stanbury JB, Wyngaarden JB, Fredrichsen DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease. McGraw-Hill, New York, pp 440–473

    Google Scholar 

  13. Taylor J, Robinson BH, Sherwood WG (1978) A defect in branched-chain amino acid metabolism in a patient with congenital lactic acidosis due to dihydrolipoyl dehydrogenase deficiency. Pediatr Res 12:60–62

    Google Scholar 

  14. Wharton DC, Tzagoloff A (1967) Cytochrome oxidase from beef heart mitochondria. Methods Enzymol 10:245–250

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Sakaguchi, Y., Yoshino, M., Aramaki, S. et al. Dihydrolipoyl dehydrogenase deficiency: a therapeutic trial with branched-chain amino acid restriction. Eur J Pediatr 145, 271–274 (1986). https://doi.org/10.1007/BF00439399

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00439399

Key words

Navigation