Glutaric aciduria Type II

Lawrence Sweetman, William L. Nyhan, Doris A. Trauner, T. Allen Merritt, Meharban Singh

Research output: Contribution to journalArticlepeer-review

67 Scopus citations

Abstract

Two infants have been studied with glutaric aciduria Type II. The clinical presentation was of an overwehlming illness very early in life; both infants died in the neonatal period. One had dysmorphic features. An acrid odor may be a clue to the diagnosis. Neonatal acidosis, hypoglycemia, and hyperammonemia are characteristics. Organic acid analysis revealed massive lactic aciduria and glutaric aciduria. A variety of other dicarboxylic acids and hydroxy acids and amino acids were found in elevated amounts in body fluids, along with elevated concentrations of butyric, isobutyric, 2-methylbutyric, and isovaleric acids. The pattern of metabolites accumulated is consistent with deficient activity of a number of acyl-CoA dehydrogenases.

Original languageEnglish (US)
Pages (from-to)1020-1026
Number of pages7
JournalThe Journal of pediatrics
Volume96
Issue number6
DOIs
StatePublished - Jun 1980
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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