Lipoamide dehydrogenase deficiency with primary lactic acidosis

Favorable response to treatment with oral lipoic acid

Reuben Matalon, David A. Stumpf, Kimberlee Michals, Robert D. Hart, Janice K. Parks, Stephen I. Goodman

Research output: Contribution to journalArticle

51 Citations (Scopus)

Abstract

An 8-month-old boy with severe lactic acidosis was found to have lipoamide dehydrogenase deficiency. Treatment with thiamine, biotin, bicarbonate, protein restriction, and ketogenic diet failed to alleviate the lactic acidosis. Oral administration of lipoic acid 25 to 50 mg/kg produced dramatic improvement in lactic and pyruvic acidemia, which has continued for 2 years and which has been accompanied by clinical improvement.

Original languageEnglish (US)
Pages (from-to)65-69
Number of pages5
JournalThe Journal of pediatrics
Volume104
Issue number1
DOIs
StatePublished - 1984
Externally publishedYes

Fingerprint

Dihydrolipoamide Dehydrogenase
Thioctic Acid
Lactic Acidosis
Ketogenic Diet
Thiamine
Bicarbonates
Biotin
Oral Administration
Milk
Therapeutics
Proteins

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Lipoamide dehydrogenase deficiency with primary lactic acidosis : Favorable response to treatment with oral lipoic acid. / Matalon, Reuben; Stumpf, David A.; Michals, Kimberlee; Hart, Robert D.; Parks, Janice K.; Goodman, Stephen I.

In: The Journal of pediatrics, Vol. 104, No. 1, 1984, p. 65-69.

Research output: Contribution to journalArticle

Matalon, Reuben ; Stumpf, David A. ; Michals, Kimberlee ; Hart, Robert D. ; Parks, Janice K. ; Goodman, Stephen I. / Lipoamide dehydrogenase deficiency with primary lactic acidosis : Favorable response to treatment with oral lipoic acid. In: The Journal of pediatrics. 1984 ; Vol. 104, No. 1. pp. 65-69.
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