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Displaying diseases 1 - 4 of 276 in total
2-Ketoglutarate dehydrogenase complex deficiency  (203740 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
Oxoglutaric acid (HMDB0000208) 101.0 (50.0-152.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Oxoglutaric acid (HMDB0000208) 875.0 (150.0-1600.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Fumaric acid (HMDB0000134) 17-124 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
L-Malic acid (HMDB0000156) 7-194 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Oxoglutaric acid (HMDB0000208) 30-1600 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Succinic acid (HMDB0000254) 75-185 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency  (246450 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
3-Hydroxyisovaleric acid (HMDB0000754) 23.0 (0.0-46.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
3-Hydroxyisovaleric acid (HMDB0000754) 2030.0 (60.0-4000.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
3-Methylcrotonylglycine (HMDB0000459) 225.0 (0.00-450.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
3-Methylglutaconic acid (HMDB0000522) 4.5 (0.00-9.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
3-Methylglutaconic acid (HMDB0000522) 5070.0 (140.0-10000.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Methylglutaric acid (HMDB0000752) 3.5 (0.0-7.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Methylglutaric acid (HMDB0000752) 507.0 (14.0-1000.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Adipic acid (HMDB0000448) 17.15 (0.00-34.30) umol/mmol creatinineAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Adipic acid (HMDB0000448) 31.0 (12.0-50.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Senecioic acid (HMDB0000509) AbnormalNot SpecifiedNot Specified details
3-Methylbut-3-enoic acid (HMDB0170858) AbnormalNot SpecifiedNot Specified details
3-Hydroxymethylglutaric acid (HMDB0000355) 481 umol/mmol creatinineAbnormalAdult (>18 years old)Female details
3-Hydroxymethylglutaric acid (HMDB0000355) 1028.4 umol/mmol creatinineAbnormalNewborn (0-30 days old)Male details
3-Methylcrotonylglycine (HMDB0000459) 27.6 umol/mmol creatinineAbnormalNewborn (0-30 days old)Male details
3-Methylglutaconic acid (HMDB0000522) 3714 umol/mmol creatinineAbnormalAdult (>18 years old)Female details
Glutaric acid (HMDB0000661) 1274.9 umol/mmol creatinineAbnormalNewborn (0-30 days old)Male details
Methylglutaric acid (HMDB0000752) 348 umol/mmol creatinineAbnormalNewborn (0-30 days old)Male details
Methylglutaric acid (HMDB0000752) 622 umol/mmol creatinineAbnormalAdult (>18 years old)Female details
3-Hydroxyisovaleric acid (HMDB0000754) 851 umol/mmol creatinineAbnormalAdult (>18 years old)Female details
3-Hydroxyisovaleric acid (HMDB0000754) 1154.8 umol/mmol creatinineAbnormalNewborn (0-30 days old)Male details
3-Hydroxymethylglutaric acid (HMDB0000355) 481 umol/mmol creatinineAbnormalAdult (>18 years old)Female details
3-Methylglutaconic acid (HMDB0000522) 3714 umol/mmol creatinineAbnormalAdult (>18 years old)Female details
Methylglutaric acid (HMDB0000752) 622 umol/mmol creatinineAbnormalAdult (>18 years old)Female details
3-Hydroxyisovaleric acid (HMDB0000754) 851 umol/mmol creatinineAbnormalAdult (>18 years old)Female details
3-Hydroxymethylglutaric acid (HMDB0000355) 1028.4 umol/mmol creatinineAbnormalNewborn (0-30 days old)Male details
3-Methylcrotonylglycine (HMDB0000459) 27.6 umol/mmol creatinineAbnormalNewborn (0-30 days old)Male details
3-Methylglutaconic acid (HMDB0000522) 4166.4 umol/mmol creatinineAbnormalNewborn (0-30 days old)Male details
Glutaric acid (HMDB0000661) 1274.9 umol/mmol creatinineAbnormalNewborn (0-30 days old)Male details
Methylglutaric acid (HMDB0000752) 348 umol/mmol creatinineAbnormalNewborn (0-30 days old)Male details
3-Hydroxyisovaleric acid (HMDB0000754) 1154.8 umol/mmol creatinineAbnormalNewborn (0-30 days old)Male details
Succinic semialdehyde dehydrogenase deficiency  (271980 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
(S)-3,4-Dihydroxybutyric acid (HMDB0000337) 137.5 (50.0-225.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Solerol (HMDB0002173) AbnormalNot AvailableNot Available details
(S)-3,4-Dihydroxybutyric acid (HMDB0000337) 810-1160 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
4-Hydroxybutyric acid (HMDB0000710) 880-3630 umol/mmol creatinineAbnormalInfant (0-1 year old)Male details
Acrodermatitis enteropathica  (201100 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
Zinc (HMDB0015532) 11.619 umol/mmol creatinineAbnormalChildren (1-13 years old)Male details
Displaying diseases 1 - 4 of 276 in total