Browsing Diseases
Displaying diseases 121 - 130 of 660 in total
Carnitine transporter defect; primary systemic carnitine deficiency (212140 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| D-Glucose (HMDB0000122) | Blood | 390 uM | Abnormal | Infant (0-1 year old) | Female | details |
| L-Carnitine (HMDB0000062) | Blood | 0 uM | Abnormal | Infant (0-1 year old) | Female | details |
| L-Carnitine (HMDB0000062) | Blood | 0.7 uM | Abnormal | Infant (0-1 year old) | Female | details |
| L-Carnitine (HMDB0000062) | Blood | 4.2 uM | Abnormal | Children (1-13 years old) | Male | details |
| alpha-D-Glucose (HMDB0003345) | Blood | 390 uM | Abnormal | Infant (0-1 year old) | Female | details |
| D-Glucose (HMDB0000122) | Cerebrospinal Fluid (CSF) | 200 uM | Abnormal | Infant (0-1 year old) | Female | details |
| alpha-D-Glucose (HMDB0003345) | Cerebrospinal Fluid (CSF) | 200 uM | Abnormal | Infant (0-1 year old) | Female | details |
| L-Carnitine (HMDB0000062) | Urine | 1.517 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Available | details |
Carnitine-acylcarnitine translocase deficiency (212138 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Sebacic acid (HMDB0000792) | Urine | 1.0 (0.0-2.0) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Sebacic acid (HMDB0000792) | Urine | 161.5 (57.0-266.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
| Adipic acid (HMDB0000448) | Urine | 91 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Adipic acid (HMDB0000448) | Urine | 21-160 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
| Dodecanedioic acid (HMDB0000623) | Urine | 37-63 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
| Sebacic acid (HMDB0000792) | Urine | 94 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Sebacic acid (HMDB0000792) | Urine | 57-266 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
| Suberic acid (HMDB0000893) | Urine | 74 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Not Specified | details |
| Suberic acid (HMDB0000893) | Urine | 28-116 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
Carnosinuria (212200 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Carnosine (HMDB0000033) | Urine | 56.56-113.1 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Not Specified | details |
| Carnosine (HMDB0000033) | Urine | 1.0 (0.0-2.2) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Carnosine (HMDB0000033) | Urine | 84.8 (56.5-113.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Celiac disease (212750 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Glycocholic acid (HMDB0000138) | Blood | 0.7 +/- 0.13 uM | Abnormal | Adult (>18 years old) | Both | details |
| Propionylcarnitine (HMDB0000824) | Blood | 0.247 +/- 0.014 uM | Abnormal | Adult (>18 years old) | Both | details |
| Butyrylcarnitine (HMDB0002013) | Blood | 0.152 +/- 0.011 uM | Abnormal | Adult (>18 years old) | Both | details |
| Isovalerylcarnitine (HMDB0000688) | Blood | 0.111 +/- 0.010 uM | Abnormal | Adult (>18 years old) | Both | details |
| Tiglylcarnitine (HMDB0002366) | Blood | 0.034 +/- 0.002 uM | Abnormal | Adult (>18 years old) | Both | details |
| Hexanoylcarnitine (HMDB0000756) | Blood | 0.060 +/- 0.004 uM | Abnormal | Adult (>18 years old) | Both | details |
| Octanoylcarnitine (HMDB0000791) | Blood | 0.086 +/- 0.006 uM | Abnormal | Adult (>18 years old) | Both | details |
| Decanoylcarnitine (HMDB0000651) | Blood | 0.103 +/- 0.008 uM | Abnormal | Adult (>18 years old) | Both | details |
| Dodecanoylcarnitine (HMDB0002250) | Blood | 0.032 +/- 0.002 uM | Abnormal | Adult (>18 years old) | Both | details |
| Palmitoylcarnitine (HMDB0000222) | Blood | 0.097 +/- 0.006 uM | Abnormal | Adult (>18 years old) | Both | details |
| Stearoylcarnitine (HMDB0000848) | Blood | 0.076 +/- 0.004 uM | Abnormal | Adult (>18 years old) | Both | details |
| Lactulose (HMDB0000740) | Blood | 0.46 (0.26-0.79) uM | Abnormal | Adult (>18 years old) | Both | details |
| Homovanillic acid (HMDB0000118) | Cerebrospinal Fluid (CSF) | 0.1282 +/- 0.0583 uM | Abnormal | Not Specified | Both | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.0703 +/- 0.0254 uM | Abnormal | Adult (>18 years old) | Both | details |
| L-Tryptophan (HMDB0000929) | Cerebrospinal Fluid (CSF) | 2.035 +/- 0.649 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Pyridoxal 5'-phosphate (HMDB0001491) | Cerebrospinal Fluid (CSF) | 0.00243 +/- 0.00138 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| 5-Hydroxyindoleacetic acid (HMDB0000763) | Cerebrospinal Fluid (CSF) | 0.071 +/- 0.0268 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Tridecanol (HMDB0013316) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 1-Tridecene (HMDB0030930) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Ethylmethylacetic acid (HMDB0002176) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| (S)-2-Methylbutanoic acid (HMDB0033742) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| o-Cresol (HMDB0002055) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 3-Hexanone (HMDB0000753) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Ethyl pentyl ketone (HMDB0031295) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 3-Octen-2-one (HMDB0033547) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Methyl propenyl ketone (HMDB0001184) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 4-Heptanone (HMDB0004814) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| p-Cresol (HMDB0001858) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 4-Methylthiazole (HMDB0033116) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Benzaldehyde (HMDB0006115) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Decanal (HMDB0011623) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Dimethyldisulfide (HMDB0005879) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Dimethyl trisulfide (HMDB0013780) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 1-Methoxy-4-(2-propenyl)benzene (HMDB0034121) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Ethyl butyrate (HMDB0033889) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Hexanal (HMDB0005994) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Pentanone (HMDB0034235) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Toluene (HMDB0034168) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| L-Asparagine (HMDB0000168) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| L-Histidine (HMDB0000177) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| L-Methionine (HMDB0000696) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| L-Proline (HMDB0000162) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Trimethylamine N-oxide (HMDB0000925) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| L-Tryptophan (HMDB0000929) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Tyramine (HMDB0000306) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Nonenal (HMDB0031269) | Feces | 0-121616.0674 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 1-Butanol (HMDB0004327) | Feces | 0-591010.807 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 1-Hydroxy-2-butanone (HMDB0031507) | Feces | 0-43811.312 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Octanol (HMDB0001183) | Feces | 0-243803.363 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| (R)-1-Octen-3-ol (HMDB0031299) | Feces | 0-443146.247 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Propyl alcohol (HMDB0000820) | Feces | 0-2792633.885 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 1,3-Di-tert-butylbenzene (HMDB0061923) | Feces | 0-367862.957 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Butanone (HMDB0000474) | Feces | 0-629584.994 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Decanone (HMDB0031409) | Feces | 0-49211.213 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Dodecanone (HMDB0031019) | Feces | 0-971941.307 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| (±)-2-Heptanol (HMDB0033908) | Feces | 0-51204.246 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Heptanone (HMDB0003671) | Feces | 0-479132.639 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Oxohexane (HMDB0005842) | Feces | 0-1158026.562 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| (S)-2-Methylbutanal (HMDB0031525) | Feces | 0-135527.942 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| (±)-2-Methylbutanal (HMDB0031526) | Feces | 0-135527.942 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Nonanol (HMDB0033916) | Feces | 0-15343.253 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Nonanone (HMDB0031266) | Feces | 0-141733.678 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Pentylfuran (HMDB0013824) | Feces | 0-41556.0535 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Acetone (HMDB0001659) | Feces | 0-188995.123 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Tridecanone (HMDB0034148) | Feces | 0-27981.561 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Undecanone (HMDB0033713) | Feces | 0-11059.448 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Diacetyl (HMDB0003407) | Feces | 0-1550872.0412 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Acetoin (HMDB0003243) | Feces | 0-3877982.0918 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Isovaleraldehyde (HMDB0006478) | Feces | 0-378681.0136 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Isovaleric acid (HMDB0000718) | Feces | 0-173762.570 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Sulcatone (HMDB0035915) | Feces | 0-470986.184 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Acetic acid (HMDB0000042) | Feces | 0-4321921.00180 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| (-)-alpha-Pinene (HMDB0035658) | Feces | 0-422410.460 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| (+)-alpha-Pinene (HMDB0006525) | Feces | 0-422398.0583 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Phenylacetaldehyde (HMDB0006236) | Feces | 0-82314.802 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| beta-Pinene (HMDB0036560) | Feces | 0-439598.350 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Butyl 2-methylbutanoate (HMDB0039216) | Feces | 0-61889.896 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Butyl propionate (HMDB0030052) | Feces | 0-232950.724 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Butyric acid (HMDB0000039) | Feces | 0-149026.560 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Carbon disulfide (HMDB0036574) | Feces | 0-3900045.0918 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Lauric aldehyde (HMDB0033933) | Feces | 0-11049.720 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| N-Dodecane (HMDB0031444) | Feces | 0-25068.277 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Ethanol (HMDB0000108) | Feces | 0-2534781.615 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Ethyl pentanoate (HMDB0040297) | Feces | 0-27704.186 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Ethyl acetate (HMDB0031217) | Feces | 0-350490.494 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Ethyl propionate (HMDB0030058) | Feces | 0-259044.613 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Furancarboxaldehyde (HMDB0032914) | Feces | 0-72471.234 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Heptanal (HMDB0031475) | Feces | 0-27878.613 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Hexadecane (HMDB0033792) | Feces | 0-105884.736 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Caproic acid (HMDB0000535) | Feces | 0-106090.855 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Indole (HMDB0000738) | Feces | 0-132368.285 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Isopentanol (HMDB0006007) | Feces | 0-185974.681 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Isobutyric acid (HMDB0001873) | Feces | 0-82477.253 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Isocaproic acid (HMDB0000689) | Feces | 0-11277.713 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Methyl butyrate (HMDB0033890) | Feces | 0-473702.0925 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Nonanal (HMDB0059835) | Feces | 0-175854.749 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Octanal (HMDB0001140) | Feces | 0-24412.691 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Octanoylcarnitine (HMDB0000791) | Feces | 0-11899.994 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Octyl acetate (HMDB0038602) | Feces | 0-20182.131 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Octyl butanoate (HMDB0034136) | Feces | 0-32132.275 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| p-Cresol (HMDB0001858) | Feces | 0-3012051.907 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Valeric acid (HMDB0000892) | Feces | 0-661531.467 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Phenol (HMDB0000228) | Feces | 0-16434.459 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| 2-Phenylethanol (HMDB0033944) | Feces | 0-71406.509 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Propionic acid (HMDB0000237) | Feces | 0-725626.644 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Propyl acetate (HMDB0034237) | Feces | 0-31201.543 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Propyl butyrate (HMDB0039618) | Feces | 0-264854.0653 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Propyl propionate (HMDB0030059) | Feces | 0-509764.118 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Styrene (HMDB0034240) | Feces | 0-315189.153 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Tetradecanal (HMDB0034283) | Feces | 0-202726.511 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Tetradecane (HMDB0059907) | Feces | 0-52808.974 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Tetradecanol (HMDB0011638) | Feces | 0-1246326.354 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Thiophene (HMDB0029718) | Feces | 0-49401.791 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| Tridecanol (HMDB0013316) | Feces | 0-256720.210 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| alpha-Cubebene (HMDB0036413) | Feces | 0-41203.595 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| D-Citronellol (HMDB0035093) | Feces | 0-717668.852 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| L-Citronellol (HMDB0035094) | Feces | 0-717668.852 nmol/g wet feces | Abnormal | Children (1-13 years old) | Not Specified | details |
| L-Proline (HMDB0000162) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| L-Asparagine (HMDB0000168) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| L-Histidine (HMDB0000177) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Tyramine (HMDB0000306) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| L-Methionine (HMDB0000696) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Trimethylamine N-oxide (HMDB0000925) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| L-Tryptophan (HMDB0000929) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| L-Proline (HMDB0000162) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| L-Asparagine (HMDB0000168) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| L-Histidine (HMDB0000177) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Tyramine (HMDB0000306) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| L-Methionine (HMDB0000696) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Trimethylamine N-oxide (HMDB0000925) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| L-Tryptophan (HMDB0000929) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Propyl propionate (HMDB0030059) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Ethyl acetate (HMDB0031217) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Octyl acetate (HMDB0038602) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Propyl butyrate (HMDB0039618) | Feces | Not Quantified | Abnormal | Children (1-13 years old) | Not Specified | details |
| Menthol (HMDB0003352) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Propyl alcohol (HMDB0000820) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Butanone (HMDB0000474) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| xi-2-Ethyl-1-hexanol (HMDB0031231) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 2-Hexanol (HMDB0061886) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 2-Pentylfuran (HMDB0013824) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Methyl isobutyl ketone (HMDB0002939) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Benzene (HMDB0001505) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| beta-Caryophyllene (HMDB0036792) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Hexadecane (HMDB0033792) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Nonadecane (HMDB0034289) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Nonanal (HMDB0059835) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Octanal (HMDB0001140) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Pentadecane (HMDB0059886) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Tetradecane (HMDB0059907) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Toluene (HMDB0034168) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Ethanol (HMDB0000108) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Phenol (HMDB0000228) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Chloroform (HMDB0029596) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Ethyl acetate (HMDB0031217) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 4-Methyl-3-penten-2-one, 9CI (HMDB0031563) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Octyl 2-methylbutyrate (HMDB0036219) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Carbon disulfide (HMDB0036574) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 1-Isopropyl-2-methylbenzene (HMDB0037050) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| 2-Pentylthiophene (HMDB0040240) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
| Hemimellitene (HMDB0059901) | Saliva | Not Quantified | Abnormal | Children (1-13 years old) | Both | details |
Cerebral creatine deficiency syndrome 1 (300352 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Creatine (HMDB0000064) | Blood | 75 uM | Abnormal | Children (1-13 years old) | Male | details |
| Guanidoacetic acid (HMDB0000128) | Blood | 1.1 uM | Abnormal | Children (1-13 years old) | Male | details |
| Creatine (HMDB0000064) | Urine | 220 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
| Guanidoacetic acid (HMDB0000128) | Urine | 74 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
Cerebral creatine deficiency syndrome 2 (612736 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| L-Lactic acid (HMDB0000190) | Blood | 1000-3700 uM | Abnormal | Children (1-13 years old) | Female | details |
| Uric acid (HMDB0000289) | Blood | 170-270 uM | Abnormal | Adult (>18 years old) | Female | details |
| Creatinine (HMDB0000562) | Blood | 33-37 uM | Abnormal | Adult (>18 years old) | Female | details |
| Ammonia (HMDB0000051) | Blood | 65-145 uM | Abnormal | Children (1-13 years old) | Female | details |
| Guanidoacetic acid (HMDB0000128) | Blood | 17.3-27.0 uM | Abnormal | Adult (>18 years old) | Female | details |
| Creatinine (HMDB0000562) | Blood | 18 uM | Abnormal | Children (1-13 years old) | Female | details |
| L-Lactic acid (HMDB0000190) | Cerebrospinal Fluid (CSF) | 1200-2600 uM | Abnormal | Children (1-13 years old) | Female | details |
| Guanidoacetic acid (HMDB0000128) | Cerebrospinal Fluid (CSF) | 11.0-12.4 uM | Abnormal | Adult (>18 years old) | Female | details |
| Uric acid (HMDB0000289) | Urine | 75-277 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
| Creatinine (HMDB0000562) | Urine | 680-3150 uM | Abnormal | Adult (>18 years old) | Female | details |
| Guanidoacetic acid (HMDB0000128) | Urine | 614-1624 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Female | details |
Cerebral creatine deficiency syndrome 3 (612718 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Creatine (HMDB0000064) | Blood | 1 uM | Abnormal | Children (1-13 years old) | Female | details |
| Guanidoacetic acid (HMDB0000128) | Blood | 0.2-0.3 uM | Abnormal | Children (1-13 years old) | Female | details |
| Creatine (HMDB0000064) | Urine | 31-40 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
| Guanidoacetic acid (HMDB0000128) | Urine | 0.9-2.6 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
Cerebral folate transport deficiency (613068 )
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| 5-Methyltetrahydrofolic acid (HMDB0001396) | Cerebrospinal Fluid (CSF) | 0.00700-0.0110 uM | Abnormal | Children (1-13 years old) | Both | details |
Cerebral infarction
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Prostaglandin B2 (HMDB0004236) | Cerebrospinal Fluid (CSF) | 0.0000004488 uM | Abnormal | Not Specified | Not Specified | details |
| Norepinephrine (HMDB0000216) | Cerebrospinal Fluid (CSF) | 0.000757 +/- 0.000266 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Norepinephrine (HMDB0000216) | Cerebrospinal Fluid (CSF) | 0.00101 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Epinephrine (HMDB0000068) | Cerebrospinal Fluid (CSF) | 0.000147 +/- 0.000109 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Epinephrine (HMDB0000068) | Cerebrospinal Fluid (CSF) | 0.000109 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Dopamine (HMDB0000073) | Cerebrospinal Fluid (CSF) | 0.000268 +/- 0.000124 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Dopamine (HMDB0000073) | Cerebrospinal Fluid (CSF) | 0.000300 uM | Abnormal | Adult (>18 years old) | Not Specified | details |
| Dihydrouracil (HMDB0000076) | Urine | 2.4 +/- 2.00 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
| Uracil (HMDB0000300) | Urine | 5.00 +/- 4.00 umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Cerebral vasospasm
| Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
|---|---|---|---|---|---|---|
| Bilirubin (HMDB0000054) | Cerebrospinal Fluid (CSF) | 17.3 +/- 12.4 uM | Abnormal | Adult (>18 years old) | Both | details |
| 20-Hydroxyeicosatetraenoic acid (HMDB0005998) | Cerebrospinal Fluid (CSF) | 0.009 +/-0.23 uM | Abnormal | Adult (>18 years old) | Both | details |
| 12-HETE (HMDB0006111) | Cerebrospinal Fluid (CSF) | Not Quantified | Abnormal | Adult (>18 years old) | Both | details |