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Displaying diseases 1 - 4 of 276 in total
11-beta-Hydroxylase deficiency  (202010 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
Tetrahydrodeoxycortisol (HMDB0005972) 0.713-1.580 umol/mmol creatinineAbnormalNewborn (0-30 days old)Female details
Tetrahydrodeoxycortisol (HMDB0005972) 0.360-0.960 umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
Pregnanetriol (HMDB0006070) 0.02 umol/mmol creatinineAbnormalNewborn (0-30 days old)Female details
Pregnanetriol (HMDB0006070) 0.0267-0.0733 umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
Congenital Adrenal Hyperplasia, due to 21-Hydroxylase-Deficiency  (201910 )
MetaboliteConcentration in UrinePatient StatusAgeSexReferenceDetails
16-a-Hydroxypregnenolone (HMDB0000315) Not AvailableAbnormalNewborn (0-30 days old)Not Available details
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) 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) 5070.0 (140.0-10000.0) umol/mmol creatinineAbnormalChildren (1-13 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) 31.0 (12.0-50.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
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
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
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
3-Hydroxymethylglutaric acid (HMDB0000355) 481 umol/mmol creatinineAbnormalAdult (>18 years old)Female details
Adipic acid (HMDB0000448) 17.15 (0.00-34.30) umol/mmol creatinineAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Senecioic acid (HMDB0000509) Not AvailableAbnormalNot SpecifiedNot Specified 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) 3714 umol/mmol creatinineAbnormalAdult (>18 years old)Female details
Methylglutaric acid (HMDB0000752) 3.5 (0.0-7.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Methylglutaric acid (HMDB0000752) 622 umol/mmol creatinineAbnormalAdult (>18 years old)Female details
3-Hydroxyisovaleric acid (HMDB0000754) 23.0 (0.0-46.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
3-Hydroxyisovaleric acid (HMDB0000754) 851 umol/mmol creatinineAbnormalAdult (>18 years old)Female details
3-Methylbut-3-enoic acid (HMDB0170858) Not AvailableAbnormalNot SpecifiedNot Specified details
Displaying diseases 1 - 4 of 276 in total