Clicking on any metabolite link will take you to the Human Metabolome Database.
Displaying diseases 229 - 232 of 479 in total
Biotinidase deficiency  (253260 )
MetaboliteConcentration in SerumPatient StatusAgeSexReferenceDetails
3-Hydroxyisovaleric acid (HMDB0000754) 9.5 (0.00-19.00) uMAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
3-Hydroxyisovaleric acid (HMDB0000754) 88.0 (10.0-166.0) uMAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Carbamoyl Phosphate Synthetase Deficiency  (237300 )
MetaboliteConcentration in SerumPatient StatusAgeSexReferenceDetails
Glutamine (HMDB0000641) 900.0 (700.0-1100.0) uMAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Glutamine (HMDB0000641) 542.5 (376.0-709.0) uMAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Cholesteryl ester storage disease  (278000 )
MetaboliteConcentration in SerumPatient StatusAgeSexReferenceDetails
Cholesterol (HMDB0000067) 9317.8 (7764.8-10870.8) uMAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Cholesterol (HMDB0000067) 5896.753 uMAbnormalAdult (>18 years old)Not Specified details
Cholesterol (HMDB0000067) 2844.924 (2689.747-16035.0288) uMAbnormalChildren (1-13 years old)Both details
Cholesterol (HMDB0000067) 4141.0 (3105.0-5176.0) uMAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Cholesterol (HMDB0000067) 8198.555 uMAbnormalChildren (1-13 years old)Not Specified details
Cholesterol (HMDB0000067) 2689.747-16035.0288 uMAbnormalChildren (1-13 years old)Both details
Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome  (530000 )
MetaboliteConcentration in SerumPatient StatusAgeSexReferenceDetails
Lactic acid (HMDB0000190) 1350.0 (900.0-1800.0) uMAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Lactic acid (HMDB0000190) 6660.901-8881.202 uMAbnormalChildren (1-13 years old)Female details
Displaying diseases 229 - 232 of 479 in total