Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 93 - 96 of 277 in total
Biotinidase deficiency  (253260 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
3-Hydroxyisovaleric acid (HMDB0000754) 275.0 (50.0-500.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Hydroxypropionic acid (HMDB0000700) 260.0 (20.0-500.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
2-Methylcitric acid (HMDB0000379) 30.0 (10.0-50.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
2-Methylcitric acid (HMDB0000379) 7.0 (2.0-12.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
3-Methylcrotonylglycine (HMDB0000459) 27.5 (5.0-50.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Hydroxypropionic acid (HMDB0000700) 6.5 (3.0-10.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Carnitine-acylcarnitine translocase deficiency  (212138 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
Sebacic acid (HMDB0000792) 1.0 (0.0-2.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Sebacic acid (HMDB0000792) 161.5 (57.0-266.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Adipic acid (HMDB0000448) 91 umol/mmol creatinineAbnormalNewborn (0-30 days old)Not Specified details
Adipic acid (HMDB0000448) 21-160 umol/mmol creatinineAbnormalNewborn (0-30 days old)Both details
Suberic acid (HMDB0000893) 74 umol/mmol creatinineAbnormalNewborn (0-30 days old)Not Specified details
Suberic acid (HMDB0000893) 28-116 umol/mmol creatinineAbnormalNewborn (0-30 days old)Both details
Dodecanedioic acid (HMDB0000623) 37-63 umol/mmol creatinineAbnormalNewborn (0-30 days old)Both details
Sebacic acid (HMDB0000792) 94 umol/mmol creatinineAbnormalNewborn (0-30 days old)Not Specified details
Sebacic acid (HMDB0000792) 57-266 umol/mmol creatinineAbnormalNewborn (0-30 days old)Both details
Cobalamin malabsorption
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
Methylmalonic acid (HMDB0000202) 275.0 (50.0-500.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Methylmalonic acid (HMDB0000202) 16.0 (1.5-30.8) umol/mmol creatinineAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Cytochrome C oxidase deficiency  (220110 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
Lactic acid (HMDB0000190) 37550.0 (100.0-75000.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Lactic acid (HMDB0000190) 12.5 (0.00-25.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Displaying diseases 93 - 96 of 277 in total