Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 265 - 268 of 479 in total
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
Fumarase deficiency  (606812 )
MetaboliteConcentration in SerumPatient StatusAgeSexReferenceDetails
Ammonia (HMDB0000051) 139 - 299 uMAbnormalInfant (0-1 year old)Male details
L-Tyrosine (HMDB0000158) 257 uMAbnormalInfant (0-1 year old)Male details
L-Threonine (HMDB0000167) 313 uMAbnormalInfant (0-1 year old)Male details
L-Asparagine (HMDB0000168) 99 uMAbnormalInfant (0-1 year old)Male details
Histidine (HMDB0000177) 130 uMAbnormalInfant (0-1 year old)Male details
Lysine (HMDB0000182) 107 uMAbnormalInfant (0-1 year old)Male details
Serine (HMDB0000187) 263 uMAbnormalInfant (0-1 year old)Male details
Ornithine (HMDB0000214) 77 uMAbnormalInfant (0-1 year old)Male details
Glutamine (HMDB0000641) 430 uMAbnormalInfant (0-1 year old)Male details
Leucine (HMDB0000687) 66 uMAbnormalInfant (0-1 year old)Male details
Methionine (HMDB0000696) 70 uMAbnormalInfant (0-1 year old)Male details
Citrulline (HMDB0000904) 181 uMAbnormalInfant (0-1 year old)Male details
N-acetylglutamate synthetase deficiency  (608300 )
MetaboliteConcentration in SerumPatient StatusAgeSexReferenceDetails
Glutamic acid (HMDB0000148) 109-296 uMAbnormalNewborn (0-30 days old)Male details
Ammonium (HMDB0041827) 78 uMAbnormalAdult (>18 years old)Male details
Ammonia (HMDB0000051) 27-246 uMAbnormalChildren (1-13 years old)Male details
Glycine (HMDB0000123) 126-378 uMAbnormalChildren (1-13 years old)Male details
Glutamic acid (HMDB0000148) 64-173 uMAbnormalInfant (0-1 year old)Male details
L-Alanine (HMDB0000161) 185-1264 uMAbnormalNewborn (0-30 days old)Male details
L-Alanine (HMDB0000161) 261-432 uMAbnormalInfant (0-1 year old)Male details
Ornithine (HMDB0000214) 32-167 uMAbnormalNewborn (0-30 days old)Male details
Ornithine (HMDB0000214) 42-290 uMAbnormalChildren (1-13 years old)Male details
Ornithine (HMDB0000214) 53-152 uMAbnormalInfant (0-1 year old)Male details
L-Arginine (HMDB0000517) 19-103 uMAbnormalNewborn (0-30 days old)Male details
L-Arginine (HMDB0000517) 35-178 uMAbnormalInfant (0-1 year old)Male details
L-Arginine (HMDB0000517) 44.500-256 uMAbnormalChildren (1-13 years old)Male details
Glutamine (HMDB0000641) 347-1054 uMAbnormalNewborn (0-30 days old)Male details
Glutamine (HMDB0000641) 442-533 uMAbnormalInfant (0-1 year old)Male details
Glutamine (HMDB0000641) 67-1103 uMAbnormalChildren (1-13 years old)Male details
Citrulline (HMDB0000904) 0-7 uMAbnormalNewborn (0-30 days old)Male details
Citrulline (HMDB0000904) 13-23 uMAbnormalInfant (0-1 year old)Male details
Citrullinemia type I  (215700 )
MetaboliteConcentration in SerumPatient StatusAgeSexReferenceDetails
Ammonia (HMDB0000051) 27.0104-572.502 uMAbnormalChildren (1 - 13 years old)Both details
Citrulline (HMDB0000904) 152-2752 uMAbnormalChildren (1 - 13 years old)Both details
L-Arginine (HMDB0000517) 6.8-94.4 uMAbnormalChildren (1 - 13 years old)Both details
Displaying diseases 265 - 268 of 479 in total