Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 193 - 196 of 277 in total
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
Cerebrotendinous xanthomatosis  (213700 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
2-Hydroxyglutarate (HMDB0059655) 4 umol/mmol creatinineAbnormalAdult (>18 years old)Male details
3-Methylglutaconic Aciduria type VI  (614739 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
Lactic acid (HMDB0000190) 0.000950-0.0260 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
3-Methylglutaconic acid (HMDB0000522) 0.0160-0.196 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
3-Hydroxyisovaleric acid (HMDB0000754) 0.0100-0.0460 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
Bartter Syndrome, Type 4A, Neonatal, with Sensorineural Deafness  (602522 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
Calcium (HMDB0000464) 1500 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Specified details
Displaying diseases 193 - 196 of 277 in total