Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 193 - 196 of 277 in total
Hyperinsulinism-hyperammonemia syndrome  (606762 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
Oxoglutaric acid (HMDB0000208) 100-166 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Oxoglutaric acid (HMDB0000208) 149-247 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
Oxoglutaric acid (HMDB0000208) 15-107 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
Adenosine kinase deficiency  (614300 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
Adenosine (HMDB0000050) 7.1 umol/mmol creatinineAbnormalAdult (>18 years old)Male details
Adenosine (HMDB0000050) 9.9 umol/mmol creatinineAbnormalAdolescent (13-18 years old)Female details
Xanthine (HMDB0000292) 4.9 umol/mmol creatinineAbnormalAdolescent (13-18 years old)Female details
Xanthine (HMDB0000292) 6.8 umol/mmol creatinineAbnormalAdult (>18 years old)Male details
Amish lethal microcephaly  (607196 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
Citric acid (HMDB0000094) 1.177-354.851 umol/mmol creatinineAbnormalInfant (0-1 year old)Both details
Fumaric acid (HMDB0000134) 0-14.611 umol/mmol creatinineAbnormalInfant (0-1 year old)Both details
L-Alanine (HMDB0000161) 427.656-681.457 umol/mmol creatinineAbnormalInfant (0-1 year old)Both details
cis-Aconitic acid (HMDB0000072) 6.494-293.514 umol/mmol creatinineAbnormalInfant (0-1 year old)Both details
Lactic acid (HMDB0000190) 12.551-1701.964 umol/mmol creatinineAbnormalInfant (0-1 year old)Both details
Oxoglutaric acid (HMDB0000208) 673.261-2970.0885 umol/mmol creatinineAbnormalInfant (0-1 year old)Both details
trans-Aconitic acid (HMDB0000958) 6.494-293.514 umol/mmol creatinineAbnormalInfant (0-1 year old)Both details
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency  (300438 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
2-Methyl-3-hydroxybutyric acid (HMDB0000354) 99 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
2-Methyl-3-hydroxybutyric acid (HMDB0000354) 89-226 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Tiglylglycine (HMDB0000959) 21 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
Tiglylglycine (HMDB0000959) 145-440 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Displaying diseases 193 - 196 of 277 in total