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Displaying diseases 1 - 4 of 172 in total
2-Ketoglutarate dehydrogenase complex deficiency  (203740 )
MetaboliteConcentration in CSFPatient StatusAgeSexReferenceDetails
Citric acid (HMDB0000094) 149.400-152.400 uMAbnormalChildren (1-13 years old)Both details
L-Lactic acid (HMDB0000190) 1930-2500 uMAbnormalChildren (1-13 years old)Both details
Oxoglutaric acid (HMDB0000208) 3.600-12.800 uMAbnormalChildren (1-13 years old)Both details
Pyruvic acid (HMDB0000243) 176.900-191.400 uMAbnormalChildren (1-13 years old)Both details
3-Methylglutaconic aciduria type I  (250950 )
MetaboliteConcentration in CSFPatient StatusAgeSexReferenceDetails
3-Hydroxyisovaleric acid (HMDB0000754) 172 uMAbnormalAdult (>18 years old)Female details
3-Methylglutaconic acid (HMDB0000522) 125 uMAbnormalAdult (>18 years old)Female details
3-Phosphoglycerate dehydrogenase deficiency  (601815 )
MetaboliteConcentration in CSFPatient StatusAgeSexReferenceDetails
Glycine (HMDB0000123) 5 uMAbnormalAdolescent (13-18 years old)Male details
L-Serine (HMDB0000187) 9 uMAbnormalAdolescent (13-18 years old)Male details
Succinic semialdehyde dehydrogenase deficiency  (271980 )
MetaboliteConcentration in CSFPatient StatusAgeSexReferenceDetails
4-Hydroxybutyric acid (HMDB0000710) 17 - 594 uMAbnormalChildren (1-13 years old)Not Specified details
4-Hydroxybutyric acid (HMDB0000710) 1760-2200 uMAbnormalInfant (0-1 year old)Male details
Displaying diseases 1 - 4 of 172 in total