Glutaric aciduria Type II.

L Sweetman; W L Nyhan; D A Tauner; T A Merritt; M Singh

doi:10.1016/s0022-3476(80)80629-9

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Glutaric aciduria Type II.

L Sweetman·W L Nyhan·D A Tauner·T A Merritt·M Singh

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Abstract

Two infants have been studied with glutaric aciduria Type II. The clinical presentation was of an overwhelming 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 characteristic. 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.

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Amino Acids Dicarboxylic Acids Genes, Recessive Glutarates Humans Hydroxy Acids Infant, Newborn Male Metabolism, Inborn Errors Renal Aminoacidurias Case Reports Journal Article Research Support, U.S. Gov't, P.H.S.

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L Sweetman, W L Nyhan, D A Tauner, T A Merritt, M Singh. 1980. Glutaric aciduria Type II.. https://doi.org/10.1016/s0022-3476(80)80629-9

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