Gas chromatographic (GC) studies (Image 08) of a random urine sample revealed a complex organic aciduria. Lactic acid was markedly elevated. There were large elevations of beta-OH-butyrate, 2-OH-butyrate, and several dicarboxylic acids (adipic, suberic, and 3-OH-sebacic). Succinate, malate, and fumarate were all elevated. 3-Methyl-glutaconic acid was present but not massively elevated.
GC analysis of cerebrospinal fluid amino acids revealed elevated alanine (10.7 mmol/dL, normal range 0 - 4.2). Milder elevations of branched chain amino acids, tyrosine, and citrulline were also observed.