The metabolites AICAR and creatine were specific to PHS; 4-hydroxy-3-methoxyphenylacetic acid, adenosine, and cAMP were specific to CHS; and 5-hydroxyindol-3-acetic acid, folic acid, fructose-1,6-diphosphate, fumaric acid, glutathione disulfide, guanosine, inosine, L-cysteine, malic acid, niacinamide, ophthalmic acid, and uracil were specific to the PF group (Figure 5a). The gene discussed is LYST; the disease is Pallister-Hall syndrome.