Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 249 - 252 of 277 in total
Sialidosis, normosomatic type
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
N-Acetylneuraminic acid (HMDB0000230) 48.621-60.502 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Isobutyryl-CoA Dehydrogenase Deficiency  (611283 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
Ethylmalonic acid (HMDB0000622) 2.567-10.269 umol/mmol creatinineAbnormalNewborn (0-30 days old)Both details
Ethylmalonic acid (HMDB0000622) 9.413-16.260 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Isobutyrylglycine (HMDB0000730) 1.791-27.339 umol/mmol creatinineAbnormalNewborn (0-30 days old)Both details
Isobutyrylglycine (HMDB0000730) 1.558-7.477 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Gamma-glutamyl transpeptidase deficiency  (231950 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
Glutathione (HMDB0000125) 27.984-40.674 umol/mmol creatinineAbnormalAdult (>18 years old)Male details
Pseudoneonatal adrenoleukodystrophy  (264470 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
Pipecolic acid (HMDB0000070) 0.93-70 umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
Displaying diseases 249 - 252 of 277 in total