title: Glutaric aciduria Type II.
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.
mesh_terms: D000596:Amino Acids / Q000097:blood; D003998:Dicarboxylic Acids / Q000097:blood / Q000652:urine; D005808:Genes, Recessive; D005977:Glutarates / Q000652:urine*; D006801:Humans; D006880:Hydroxy Acids / Q000097:blood / Q000652:urine; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics / Q000652:urine*; D000608:Renal Aminoacidurias / Q000175:diagnosis
chemical_list: D000596:Amino Acids; D003998:Dicarboxylic Acids; D005977:Glutarates; D006880:Hydroxy Acids