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Browsing Diseases
Displaying diseases 251 - 260 of 660 in total
Friedreich's ataxia (229300 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Thiamine (HMDB0000235) | Blood | 0.18 +/- 0.066 uM | Abnormal | Adult (>18 years old) | Both | details |
Thiamine (HMDB0000235) | Cerebrospinal Fluid (CSF) | 0.115 +/- 0.0464 uM | Abnormal | Adult (>18 years old) | Both | details |
Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.17 +/- 0.01 uM | Abnormal | Not Specified | Not Specified | details |
Vanylglycol (HMDB0001490) | Cerebrospinal Fluid (CSF) | 0.042 +/- 0.0022 uM | Abnormal | Not Specified | Not Specified | details |
Thiamine (HMDB0000235) | Cerebrospinal Fluid (CSF) | 0.1 +/- 0.01 uM | Abnormal | Not Specified | Not Specified | details |
L-Tryptophan (HMDB0000929) | Cerebrospinal Fluid (CSF) | 2.4 +/- 0.13 uM | Abnormal | Not Specified | Not Specified | details |
5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.1 +/- 0.01 uM | Abnormal | Adult (>18 years old) | Both | details |
Frontotemporal dementia (600274 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Glycine (HMDB0000123) | Saliva | 120.76 +/- 85.97 uM | Abnormal | Adult (>18 years old) | Male | details |
Pyruvic acid (HMDB0000243) | Saliva | 72.05 +/- 29.52 uM | Abnormal | Adult (>18 years old) | Male | details |
L-Lactic acid (HMDB0000190) | Saliva | 811.10 +/- 931.32 uM | Abnormal | Adult (>18 years old) | Male | details |
Putrescine (HMDB0001414) | Saliva | 27.12 +/- 15.48 uM | Abnormal | Adult (>18 years old) | Male | details |
beta-Alanine (HMDB0000056) | Saliva | 3.33 +/- 1.32 uM | Abnormal | Adult (>18 years old) | Male | details |
L-Alanine (HMDB0000161) | Saliva | 36.63 +/- 16.68 uM | Abnormal | Adult (>18 years old) | Male | details |
Sarcosine (HMDB0000271) | Saliva | 20.53 +/- 27.29 uM | Abnormal | Adult (>18 years old) | Male | details |
3-Hydroxybutyric acid (HMDB0000011) | Saliva | 6.37 +/- 1.75 uM | Abnormal | Adult (>18 years old) | Male | details |
2-Hydroxybutyric acid (HMDB0000008) | Saliva | 7.30 +/- 1.32 uM | Abnormal | Adult (>18 years old) | Male | details |
gamma-Aminobutyric acid (HMDB0000112) | Saliva | 1.78 +/- 0.50 uM | Abnormal | Adult (>18 years old) | Male | details |
Choline (HMDB0000097) | Saliva | 32.52 +/- 8.23 uM | Abnormal | Adult (>18 years old) | Male | details |
L-Serine (HMDB0000187) | Saliva | 23.41 +/- 14.42 uM | Abnormal | Adult (>18 years old) | Male | details |
Creatinine (HMDB0000562) | Saliva | 9.65 +/- 3.44 uM | Abnormal | Adult (>18 years old) | Male | details |
L-Proline (HMDB0000162) | Saliva | 48.08 +/- 21.24 uM | Abnormal | Adult (>18 years old) | Male | details |
Betaine (HMDB0000043) | Saliva | 14.04 +/- 14.30 uM | Abnormal | Adult (>18 years old) | Male | details |
L-Valine (HMDB0000883) | Saliva | 4.77 +/- 1.15 uM | Abnormal | Adult (>18 years old) | Male | details |
L-Threonine (HMDB0000167) | Saliva | 4.36 +/- 1.21 uM | Abnormal | Adult (>18 years old) | Male | details |
Creatine (HMDB0000064) | Saliva | 26.61 +/- 5.64 uM | Abnormal | Adult (>18 years old) | Male | details |
L-Isoleucine (HMDB0000172) | Saliva | 1.22 +/- 0.30 uM | Abnormal | Adult (>18 years old) | Male | details |
L-Leucine (HMDB0000687) | Saliva | 3.74 +/- 0.65 uM | Abnormal | Adult (>18 years old) | Male | details |
Malic acid (HMDB0000156) | Saliva | 18.70 +/- 15.26 uM | Abnormal | Adult (>18 years old) | Male | details |
L-Asparagine (HMDB0000168) | Saliva | 0.97 +/- 1.12 uM | Abnormal | Adult (>18 years old) | Male | details |
Ornithine (HMDB0000214) | Saliva | 24.28 +/- 12.91 uM | Abnormal | Adult (>18 years old) | Male | details |
L-Aspartic acid (HMDB0000191) | Saliva | 11.32 +/- 3.39 uM | Abnormal | Adult (>18 years old) | Male | details |
Adenine (HMDB0000034) | Saliva | 0.87 +/- 0.78 uM | Abnormal | Adult (>18 years old) | Male | details |
Hypoxanthine (HMDB0000157) | Saliva | 2.99 +/- 1.49 uM | Abnormal | Adult (>18 years old) | Male | details |
Spermidine (HMDB0001257) | Saliva | 0.72 +/- 0.39 uM | Abnormal | Adult (>18 years old) | Male | details |
L-Glutamine (HMDB0000641) | Saliva | 19.49 +/- 3.73 uM | Abnormal | Adult (>18 years old) | Male | details |
L-Lysine (HMDB0000182) | Saliva | 41.71 +/- 22.55 uM | Abnormal | Adult (>18 years old) | Male | details |
D-Glutamic acid (HMDB0003339) | Saliva | 43.79 +/- 10.57 uM | Abnormal | Adult (>18 years old) | Male | details |
Guanine (HMDB0000132) | Saliva | 1.20 +/- 0.33 uM | Abnormal | Adult (>18 years old) | Male | details |
L-Histidine (HMDB0000177) | Saliva | 23.31 +/- 8.62 uM | Abnormal | Adult (>18 years old) | Male | details |
L-Phenylalanine (HMDB0000159) | Saliva | 9.01 +/- 2.41 uM | Abnormal | Adult (>18 years old) | Male | details |
Phosphoenolpyruvic acid (HMDB0000263) | Saliva | 2.45 +/- 3.70 uM | Abnormal | Adult (>18 years old) | Male | details |
Dihydroxyacetone phosphate (HMDB0001473) | Saliva | 10.80 +/- 9.74 uM | Abnormal | Adult (>18 years old) | Male | details |
Glycerol 3-phosphate (HMDB0000126) | Saliva | 18.18 +/- 11.57 uM | Abnormal | Adult (>18 years old) | Male | details |
cis-Aconitic acid (HMDB0000072) | Saliva | 2.17 +/- 0.53 uM | Abnormal | Adult (>18 years old) | Male | details |
L-Arginine (HMDB0000517) | Saliva | 18.89 +/- 1.07 uM | Abnormal | Adult (>18 years old) | Male | details |
Citrulline (HMDB0000904) | Saliva | 17.48 +/- 14.00 uM | Abnormal | Adult (>18 years old) | Male | details |
L-Tyrosine (HMDB0000158) | Saliva | 25.82 +/- 9.25 uM | Abnormal | Adult (>18 years old) | Male | details |
3-Phosphoglyceric acid (HMDB0000807) | Saliva | 7.73 +/- 6.31 uM | Abnormal | Adult (>18 years old) | Male | details |
Isocitric acid (HMDB0000193) | Saliva | 3.28 +/- 1.43 uM | Abnormal | Adult (>18 years old) | Male | details |
Citric acid (HMDB0000094) | Saliva | 67.38 +/- 26.37 uM | Abnormal | Adult (>18 years old) | Male | details |
L-Tryptophan (HMDB0000929) | Saliva | 0.40 +/- 0.21 uM | Abnormal | Adult (>18 years old) | Male | details |
D-Ribose 5-phosphate (HMDB0001548) | Saliva | 1.32 +/- 0.68 uM | Abnormal | Adult (>18 years old) | Male | details |
D-Ribulose 5-phosphate (HMDB0000618) | Saliva | 3.16 +/- 1.86 uM | Abnormal | Adult (>18 years old) | Male | details |
Cytidine (HMDB0000089) | Saliva | 0.48 +/- 0.23 uM | Abnormal | Adult (>18 years old) | Male | details |
Glucose 1-phosphate (HMDB0001586) | Saliva | 0.94 +/- 0.22 uM | Abnormal | Adult (>18 years old) | Male | details |
Glucose 6-phosphate (HMDB0001401) | Saliva | 5.51 +/- 3.94 uM | Abnormal | Adult (>18 years old) | Male | details |
Fructose 6-phosphate (HMDB0000124) | Saliva | 1.46 +/- 0.81 uM | Abnormal | Adult (>18 years old) | Male | details |
Adenosine (HMDB0000050) | Saliva | 0.48 +/- 0.32 uM | Abnormal | Adult (>18 years old) | Male | details |
D-Sedoheptulose 7-phosphate (HMDB0001068) | Saliva | 0.84 +/- 0.13 uM | Abnormal | Adult (>18 years old) | Male | details |
Oxidized glutathione (HMDB0003337) | Saliva | 0.58 +/- 0.47 uM | Abnormal | Adult (>18 years old) | Male | details |
Cytidine monophosphate (HMDB0000095) | Saliva | 1.02 +/- 0.31 uM | Abnormal | Adult (>18 years old) | Male | details |
Uridine 5'-monophosphate (HMDB0000288) | Saliva | 1.61 +/- 1.18 uM | Abnormal | Adult (>18 years old) | Male | details |
Adenosine monophosphate (HMDB0000045) | Saliva | 3.72 +/- 4.53 uM | Abnormal | Adult (>18 years old) | Male | details |
Fructose intolerance, hereditary (229600 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
L-Lactic acid (HMDB0000190) | Blood | 5200 uM | Abnormal | Children (1-13 years old) | Male | details |
L-Lactic acid (HMDB0000190) | Urine | 22717.959 (5146.0569-92252.484) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Not Available | details |
Uric acid (HMDB0000289) | Urine | 2084.857 (807.0416-3160.913) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Not Available | details |
Magnesium (HMDB0000547) | Urine | 13024.810 (4186.546-22328.245) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Not Available | details |
Phosphorus (HMDB0001315) | Urine | 2660.423 (1330.212-35583.159) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Not Available | details |
Fructose-1,6-diphosphatase deficiency (229700 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
D-Glucose (HMDB0000122) | Blood | 1110.15 uM | Abnormal | Infant (0-1 year old) | Female | details |
Uric acid (HMDB0000289) | Blood | 713.817 uM | Abnormal | Infant (0-1 year old) | Female | details |
D-Glucose (HMDB0000122) | Blood | 2220.299 uM | Abnormal | Infant (0-1 year old) | Female | details |
D-Glucose (HMDB0000122) | Blood | 444.0598-555.0748 uM | Abnormal | Children (1-13 years old) | Female | details |
L-Lactic acid (HMDB0000190) | Blood | 20000 uM | Abnormal | Infant (0-1 year old) | Female | details |
L-Lactic acid (HMDB0000190) | Blood | 6000-10000 uM | Abnormal | Infant (0-1 year old) | Female | details |
Pyruvic acid (HMDB0000243) | Blood | 500 uM | Abnormal | Infant (0-1 year old) | Female | details |
Carbon dioxide (HMDB0001967) | Blood | 5000 uM | Abnormal | Infant (0-1 year old) | Female | details |
Fumarase deficiency (606812 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Ammonia (HMDB0000051) | Blood | 139 - 299 uM | Abnormal | Infant (0-1 year old) | Male | details |
L-Tyrosine (HMDB0000158) | Blood | 257 uM | Abnormal | Infant (0-1 year old) | Male | details |
L-Threonine (HMDB0000167) | Blood | 313 uM | Abnormal | Infant (0-1 year old) | Male | details |
L-Asparagine (HMDB0000168) | Blood | 99 uM | Abnormal | Infant (0-1 year old) | Male | details |
L-Histidine (HMDB0000177) | Blood | 130 uM | Abnormal | Infant (0-1 year old) | Male | details |
L-Lysine (HMDB0000182) | Blood | 107 uM | Abnormal | Infant (0-1 year old) | Male | details |
L-Serine (HMDB0000187) | Blood | 263 uM | Abnormal | Infant (0-1 year old) | Male | details |
Ornithine (HMDB0000214) | Blood | 77 uM | Abnormal | Infant (0-1 year old) | Male | details |
L-Glutamine (HMDB0000641) | Blood | 430 uM | Abnormal | Infant (0-1 year old) | Male | details |
L-Leucine (HMDB0000687) | Blood | 66 uM | Abnormal | Infant (0-1 year old) | Male | details |
L-Methionine (HMDB0000696) | Blood | 70 uM | Abnormal | Infant (0-1 year old) | Male | details |
Citrulline (HMDB0000904) | Blood | 181 uM | Abnormal | Infant (0-1 year old) | Male | details |
Pyruvic acid (HMDB0000243) | Cerebrospinal Fluid (CSF) | 253 - 345 uM | Abnormal | Infant (0-1 year old) | Male | details |
p-Hydroxyphenylacetic acid (HMDB0000020) | Urine | 24.522 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
Glycolic acid (HMDB0000115) | Urine | 5.947 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
Fumaric acid (HMDB0000134) | Urine | 482.3 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
Fumaric acid (HMDB0000134) | Urine | 2269.534 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
Fumaric acid (HMDB0000134) | Urine | 151-772 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Fumaric acid (HMDB0000134) | Urine | 217-445 umol/mmol creatinine | Abnormal | Children (1 - 13 years old) | Female | details |
Fumaric acid (HMDB0000134) | Urine | 313.400-493.200 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
L-Tyrosine (HMDB0000158) | Urine | 35.150-369 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
L-Threonine (HMDB0000167) | Urine | 226.200-1060 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
L-Asparagine (HMDB0000168) | Urine | 20.700-447 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
L-Histidine (HMDB0000177) | Urine | 246.700-642.700 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
L-Lysine (HMDB0000182) | Urine | 268.300-365.200 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
L-Serine (HMDB0000187) | Urine | 341.600-735 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
L-Cystine (HMDB0000192) | Urine | 135.900-156.400 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
Methylmalonic acid (HMDB0000202) | Urine | 3.83 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
Ornithine (HMDB0000214) | Urine | 92.570-123.800 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
Succinic acid (HMDB0000254) | Urine | 141.698 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
3-Hydroxybutyric acid (HMDB0000011) | Urine | 351.872 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
Adipic acid (HMDB0000448) | Urine | 4.642 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
L-Glutamine (HMDB0000641) | Urine | 154-512 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
Glutaric acid (HMDB0000661) | Urine | 5.135 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
L-Leucine (HMDB0000687) | Urine | 53.900-17.750 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
SAICAR (HMDB0000797) | Urine | <0.300 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
Citrulline (HMDB0000904) | Urine | 63.800-549.400 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
Succinyladenosine (HMDB0000912) | Urine | 14.6 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
Succinyladenosine (HMDB0000912) | Urine | 14.200-24.400 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
Oxalic acid (HMDB0002329) | Urine | 84.134 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
2-oxoglutarate(2-) (HMDB0062781) | Urine | 1172.1 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
2-oxoglutarate(2-) (HMDB0062781) | Urine | 385.200-1367.300 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
Oxoglutaric acid (HMDB0000208) | Urine | 1172.1 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
Oxoglutaric acid (HMDB0000208) | Urine | 385.200-1367.300 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Male | details |
Functional hypothalamic amenorrhea
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Cortisol (HMDB0000063) | Cerebrospinal Fluid (CSF) | 0.0001+/- 0.00001 uM | Abnormal | Adult (>18 years old) | Female | details |
Gaba-transaminase deficiency (613163 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
beta-Alanine (HMDB0000056) | Blood | 23.0 uM | Abnormal | Children (1-13 years old) | Both | details |
gamma-Aminobutyric acid (HMDB0000112) | Blood | 1.0 (0.0-2.0) uM | Abnormal | Adult (>18 years old) | Both | details |
gamma-Aminobutyric acid (HMDB0000112) | Blood | 1.45 (0.00-2.9) uM | Abnormal | Children (1-13 years old) | Both | details |
beta-Alanine (HMDB0000056) | Cerebrospinal Fluid (CSF) | 0.03 (0.00-0.06) uM | Abnormal | Adult (>18 years old) | Both | details |
beta-Alanine (HMDB0000056) | Cerebrospinal Fluid (CSF) | 0.48 uM | Abnormal | Children (1-13 years old) | Both | details |
gamma-Aminobutyric acid (HMDB0000112) | Cerebrospinal Fluid (CSF) | 0.05 (0.00-0.10) uM | Abnormal | Adult (>18 years old) | Both | details |
gamma-Aminobutyric acid (HMDB0000112) | Cerebrospinal Fluid (CSF) | 2.4 (0.00-4.8) uM | Abnormal | Children (1-13 years old) | Both | details |
beta-Alanine (HMDB0000056) | Urine | 0.0-2.3 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Galactose-1-phosphate uridyltransferase deficiency (230400 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
D-Galactose (HMDB0000143) | Blood | 2.72 (0.58-3.98) uM | Abnormal | Infant (0-1 year old) | Both | details |
Galactosemia
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Galactitol (HMDB0000107) | Amniotic Fluid | 7.96 uM | Abnormal | Adult (>18 years old) | Both | details |
Galactitol (HMDB0000107) | Blood | 11.63 +/- 0.46 uM | Abnormal | Adult (>18 years old) | Both | details |
Galactonic acid (HMDB0000565) | Blood | 3.00 (0.68 - 6.47) uM | Abnormal | Children (1-13 years old) | Not Specified | details |
D-Galactose (HMDB0000143) | Cellular Cytoplasm | 1496.5 (921.0 - 2070) uM | Abnormal | Children (1-13 years old) | Both | details |
Galactitol (HMDB0000107) | Urine | 38500 (8000-69000) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Galactitol (HMDB0000107) | Urine | 472.5 (45-900) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Galactosemia type 1 (230400 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
D-Galactose (HMDB0000143) | Blood | 2.72 (0.58-3.98) uM | Abnormal | Infant (0-1 year old) | Both | details |
Glycocholic acid (HMDB0000138) | Blood | 2.9 +/- 2.4 uM | Abnormal | Children (1-13 years old) | Not Specified | details |
D-Galactose (HMDB0000143) | Blood | 2.720 (0.580-3.980) uM | Abnormal | Infant (0-1 year old) | Both | details |