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Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 5 - 8 of 479 in total
2-Ketoglutarate dehydrogenase complex deficiency  (203740 )
MetaboliteConcentration in SerumPatient StatusAgeSexReferenceDetails
Lactic acid (HMDB0000190) 1430-11520 uMAbnormalInfant (0-1 year old)Male details
Pyruvic acid (HMDB0000243) 60-240 uMAbnormalInfant (0-1 year old)Male details
Citric acid (HMDB0000094) 71-107 uMAbnormalChildren (1-13 years old)Both details
Lactic acid (HMDB0000190) 1000-3580 uMAbnormalChildren (1-13 years old)Both details
Oxoglutaric acid (HMDB0000208) 17-37 uMAbnormalChildren (1-13 years old)Both details
Pyruvic acid (HMDB0000243) 102-230 uMAbnormalChildren (1-13 years old)Both details
Acetoacetic acid (HMDB0000060) 100 uMAbnormalNewborn (0-30 days old)Male details
Acetoacetic acid (HMDB0000060) 50-1280 uMAbnormalChildren (1-13 years old)Male details
Lactic acid (HMDB0000190) 7700 uMAbnormalNewborn (0-30 days old)Male details
Lactic acid (HMDB0000190) 1400-7800 uMAbnormalChildren (1-13 years old)Both details
Pyruvic acid (HMDB0000243) 270 uMAbnormalNewborn (0-30 days old)Male details
Pyruvic acid (HMDB0000243) 5-440 uMAbnormalChildren (1-13 years old)Both details
3-Hydroxybutyric acid (HMDB0000011) 100 uMAbnormalNewborn (0-30 days old)Male details
3-Hydroxybutyric acid (HMDB0000011) 120-2000 uMAbnormalChildren (1-13 years old)Male details
Hydrogen carbonate (HMDB0000595) 15000 uMAbnormalNewborn (0-30 days old)Male details
Hydrogen carbonate (HMDB0000595) 11000-21000 uMAbnormalChildren (1-13 years old)Both details
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency  (246450 )
MetaboliteConcentration in SerumPatient StatusAgeSexReferenceDetails
Ammonia (HMDB0000051) 13446.464-63415.637 uMAbnormalChildren (1 - 13 years old)Both details
Ammonia (HMDB0000051) 231(96-780) uMAbnormalAdult (>18 years old)Both details
Lactic acid (HMDB0000190) 10000 uMAbnormalInfant (0-1 year old)Male details
Pyruvic acid (HMDB0000243) 500 uMAbnormalInfant (0-1 year old)Male details
D-Glucose (HMDB0000122) 900-2200 uMAbnormalInfant (0-1 year old)Both details
Pyruvic acid (HMDB0000243) 400-40200 uMAbnormalNewborn (0-30 days old)Both details
Ammonia (HMDB0000051) 85-835 uMAbnormalInfant (0-1 year old)Both details
D-Glucose (HMDB0000122) 200-2200 uMAbnormalNewborn (0-30 days old)Both details
Lactic acid (HMDB0000190) 10000-37900 uMAbnormalNewborn (0-30 days old)Both details
Ammonia (HMDB0000051) 105-500 uMAbnormalNewborn (0-30 days old)Both details
D-Glucose (HMDB0000122) 2300 uMAbnormalInfant (0-1 year old)Female details
3-Hydroxybutyric acid (HMDB0000011) 64 uMAbnormalInfant (0-1 year old)Female details
3-Hydroxyisovalerylcarnitine (HMDB0061189) 5.05 uMAbnormalAdult (>18 years old)Female details
L-Carnitine (HMDB0000062) 17 uMAbnormalAdult (>18 years old)Male details
D-Glucose (HMDB0000122) 166.522 uMAbnormalNewborn (0-30 days old)Male details
Hydrogen carbonate (HMDB0000595) 16900 uMAbnormalNewborn (0-30 days old)Male details
Lactic acid (HMDB0000190) 3140 uMAbnormalNewborn (0-30 days old)Male details
Cortisol (HMDB0000063) 0.353 uMAbnormalNewborn (0-30 days old)Male details
Ammonia (HMDB0000051) 63 uMAbnormalNewborn (0-30 days old)Male details
3-Methylglutarylcarnitine (HMDB0000552) 0.76 uMAbnormalNewborn (0-30 days old)Male details
3-Hydroxyisovalerylcarnitine (HMDB0061189) 7.78 uMAbnormalNewborn (0-30 days old)Male details
L-Carnitine (HMDB0000062) 20.540 +/- 1.850 uMAbnormalChildren (1-13 years old)Not Specified details
3-Hydroxyisovalerylcarnitine (HMDB0061189) 4.81 +/- 0.47 uMAbnormalChildren (1 - 13 years old)Not Specified details
3-Hydroxyisovalerylcarnitine (HMDB0061189) 5.05 uMAbnormalAdult (>18 years old)Female details
alpha-D-Glucose (HMDB0003345) 2300 uMAbnormalInfant (0-1 year old)Female details
alpha-D-Glucose (HMDB0003345) 166.522 uMAbnormalNewborn (0-30 days old)Male details
alpha-D-Glucose (HMDB0003345) 900-2200 uMAbnormalInfant (0-1 year old)Both details
alpha-D-Glucose (HMDB0003345) 200-2200 uMAbnormalNewborn (0-30 days old)Both details
3-Methylglutaconic aciduria type I  (250950 )
MetaboliteConcentration in SerumPatient StatusAgeSexReferenceDetails
3-Hydroxyisovaleric acid (HMDB0000754) 10.0 (10.0 - 20.0) uMAbnormalAdult (>18 years old)Both details
3-Hydroxyisovaleric acid (HMDB0000754) 20 uMAbnormalAdult (>18 years old)Female details
3-Phosphoglycerate dehydrogenase deficiency  (601815 )
MetaboliteConcentration in SerumPatient StatusAgeSexReferenceDetails
Glycine (HMDB0000123) 175-252 uMAbnormalAdolescent (13-18 years old)Both details
Serine (HMDB0000187) 56-63 uMAbnormalAdolescent (13-18 years old)Both details
Displaying diseases 5 - 8 of 479 in total