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Displaying diseases 121 - 130 of 660 in total
Carnitine transporter defect; primary systemic carnitine deficiency  (212140 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
D-Glucose (HMDB0000122) Blood390 uMAbnormalInfant (0-1 year old)Female details
L-Carnitine (HMDB0000062) Blood0 uMAbnormalInfant (0-1 year old)Female details
L-Carnitine (HMDB0000062) Blood0.7 uMAbnormalInfant (0-1 year old)Female details
L-Carnitine (HMDB0000062) Blood4.2 uMAbnormalChildren (1-13 years old)Male details
alpha-D-Glucose (HMDB0003345) Blood390 uMAbnormalInfant (0-1 year old)Female details
D-Glucose (HMDB0000122) Cerebrospinal Fluid (CSF)200 uMAbnormalInfant (0-1 year old)Female details
alpha-D-Glucose (HMDB0003345) Cerebrospinal Fluid (CSF)200 uMAbnormalInfant (0-1 year old)Female details
L-Carnitine (HMDB0000062) Urine1.517 umol/mmol creatinineAbnormalChildren (1-13 years old)Not Available details
Carnitine-acylcarnitine translocase deficiency  (212138 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Sebacic acid (HMDB0000792) Urine1.0 (0.0-2.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Sebacic acid (HMDB0000792) Urine161.5 (57.0-266.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
Adipic acid (HMDB0000448) Urine91 umol/mmol creatinineAbnormalNewborn (0-30 days old)Not Specified details
Adipic acid (HMDB0000448) Urine21-160 umol/mmol creatinineAbnormalNewborn (0-30 days old)Both details
Dodecanedioic acid (HMDB0000623) Urine37-63 umol/mmol creatinineAbnormalNewborn (0-30 days old)Both details
Sebacic acid (HMDB0000792) Urine94 umol/mmol creatinineAbnormalNewborn (0-30 days old)Not Specified details
Sebacic acid (HMDB0000792) Urine57-266 umol/mmol creatinineAbnormalNewborn (0-30 days old)Both details
Suberic acid (HMDB0000893) Urine74 umol/mmol creatinineAbnormalNewborn (0-30 days old)Not Specified details
Suberic acid (HMDB0000893) Urine28-116 umol/mmol creatinineAbnormalNewborn (0-30 days old)Both details
Carnosinuria  (212200 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Carnosine (HMDB0000033) Urine56.56-113.1 umol/mmol creatinineAbnormalAdult (>18 years old)Not Specified details
Carnosine (HMDB0000033) Urine1.0 (0.0-2.2) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Carnosine (HMDB0000033) Urine84.8 (56.5-113.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
Celiac disease  (212750 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Glycocholic acid (HMDB0000138) Blood0.7 +/- 0.13 uMAbnormalAdult (>18 years old)Both details
Propionylcarnitine (HMDB0000824) Blood0.247 +/- 0.014 uMAbnormalAdult (>18 years old)Both details
Butyrylcarnitine (HMDB0002013) Blood0.152 +/- 0.011 uMAbnormalAdult (>18 years old)Both details
Isovalerylcarnitine (HMDB0000688) Blood0.111 +/- 0.010 uMAbnormalAdult (>18 years old)Both details
Tiglylcarnitine (HMDB0002366) Blood0.034 +/- 0.002 uMAbnormalAdult (>18 years old)Both details
Hexanoylcarnitine (HMDB0000756) Blood0.060 +/- 0.004 uMAbnormalAdult (>18 years old)Both details
Octanoylcarnitine (HMDB0000791) Blood0.086 +/- 0.006 uMAbnormalAdult (>18 years old)Both details
Decanoylcarnitine (HMDB0000651) Blood0.103 +/- 0.008 uMAbnormalAdult (>18 years old)Both details
Dodecanoylcarnitine (HMDB0002250) Blood0.032 +/- 0.002 uMAbnormalAdult (>18 years old)Both details
Palmitoylcarnitine (HMDB0000222) Blood0.097 +/- 0.006 uMAbnormalAdult (>18 years old)Both details
Stearoylcarnitine (HMDB0000848) Blood0.076 +/- 0.004 uMAbnormalAdult (>18 years old)Both details
Lactulose (HMDB0000740) Blood0.46 (0.26-0.79) uMAbnormalAdult (>18 years old)Both details
Homovanillic acid (HMDB0000118) Cerebrospinal Fluid (CSF)0.1282 +/- 0.0583 uMAbnormalNot SpecifiedBoth details
5-Hydroxyindoleacetic acid (HMDB0000763) Cerebrospinal Fluid (CSF)0.0703 +/- 0.0254 uMAbnormalAdult (>18 years old)Both details
L-Tryptophan (HMDB0000929) Cerebrospinal Fluid (CSF)2.035 +/- 0.649 uMAbnormalAdult (>18 years old)Not Specified details
Pyridoxal 5'-phosphate (HMDB0001491) Cerebrospinal Fluid (CSF)0.00243 +/- 0.00138 uMAbnormalAdult (>18 years old)Not Specified details
5-Hydroxyindoleacetic acid (HMDB0000763) Cerebrospinal Fluid (CSF)0.071 +/- 0.0268 uMAbnormalAdult (>18 years old)Not Specified details
Tridecanol (HMDB0013316) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
1-Tridecene (HMDB0030930) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Ethylmethylacetic acid (HMDB0002176) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
(S)-2-Methylbutanoic acid (HMDB0033742) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
o-Cresol (HMDB0002055) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
3-Hexanone (HMDB0000753) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Ethyl pentyl ketone (HMDB0031295) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
3-Octen-2-one (HMDB0033547) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Methyl propenyl ketone (HMDB0001184) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
4-Heptanone (HMDB0004814) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
p-Cresol (HMDB0001858) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
4-Methylthiazole (HMDB0033116) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Benzaldehyde (HMDB0006115) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Decanal (HMDB0011623) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Dimethyldisulfide (HMDB0005879) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Dimethyl trisulfide (HMDB0013780) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
1-Methoxy-4-(2-propenyl)benzene (HMDB0034121) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Ethyl butyrate (HMDB0033889) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Hexanal (HMDB0005994) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
2-Pentanone (HMDB0034235) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Toluene (HMDB0034168) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
L-Asparagine (HMDB0000168) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
L-Histidine (HMDB0000177) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
L-Methionine (HMDB0000696) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
L-Proline (HMDB0000162) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Trimethylamine N-oxide (HMDB0000925) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
L-Tryptophan (HMDB0000929) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Tyramine (HMDB0000306) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
2-Nonenal (HMDB0031269) Feces0-121616.0674 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
1-Butanol (HMDB0004327) Feces0-591010.807 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
1-Hydroxy-2-butanone (HMDB0031507) Feces0-43811.312 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Octanol (HMDB0001183) Feces0-243803.363 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
(R)-1-Octen-3-ol (HMDB0031299) Feces0-443146.247 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Propyl alcohol (HMDB0000820) Feces0-2792633.885 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
1,3-Di-tert-butylbenzene (HMDB0061923) Feces0-367862.957 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Butanone (HMDB0000474) Feces0-629584.994 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
2-Decanone (HMDB0031409) Feces0-49211.213 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
2-Dodecanone (HMDB0031019) Feces0-971941.307 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
(±)-2-Heptanol (HMDB0033908) Feces0-51204.246 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
2-Heptanone (HMDB0003671) Feces0-479132.639 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
2-Oxohexane (HMDB0005842) Feces0-1158026.562 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
(S)-2-Methylbutanal (HMDB0031525) Feces0-135527.942 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
(±)-2-Methylbutanal (HMDB0031526) Feces0-135527.942 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
2-Nonanol (HMDB0033916) Feces0-15343.253 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
2-Nonanone (HMDB0031266) Feces0-141733.678 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
2-Pentylfuran (HMDB0013824) Feces0-41556.0535 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Acetone (HMDB0001659) Feces0-188995.123 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
2-Tridecanone (HMDB0034148) Feces0-27981.561 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
2-Undecanone (HMDB0033713) Feces0-11059.448 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Diacetyl (HMDB0003407) Feces0-1550872.0412 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Acetoin (HMDB0003243) Feces0-3877982.0918 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Isovaleraldehyde (HMDB0006478) Feces0-378681.0136 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Isovaleric acid (HMDB0000718) Feces0-173762.570 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Sulcatone (HMDB0035915) Feces0-470986.184 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Acetic acid (HMDB0000042) Feces0-4321921.00180 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
(-)-alpha-Pinene (HMDB0035658) Feces0-422410.460 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
(+)-alpha-Pinene (HMDB0006525) Feces0-422398.0583 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Phenylacetaldehyde (HMDB0006236) Feces0-82314.802 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
beta-Pinene (HMDB0036560) Feces0-439598.350 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Butyl 2-methylbutanoate (HMDB0039216) Feces0-61889.896 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Butyl propionate (HMDB0030052) Feces0-232950.724 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Butyric acid (HMDB0000039) Feces0-149026.560 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Carbon disulfide (HMDB0036574) Feces0-3900045.0918 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Lauric aldehyde (HMDB0033933) Feces0-11049.720 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
N-Dodecane (HMDB0031444) Feces0-25068.277 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Ethanol (HMDB0000108) Feces0-2534781.615 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Ethyl pentanoate (HMDB0040297) Feces0-27704.186 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Ethyl acetate (HMDB0031217) Feces0-350490.494 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Ethyl propionate (HMDB0030058) Feces0-259044.613 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
2-Furancarboxaldehyde (HMDB0032914) Feces0-72471.234 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Heptanal (HMDB0031475) Feces0-27878.613 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Hexadecane (HMDB0033792) Feces0-105884.736 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Caproic acid (HMDB0000535) Feces0-106090.855 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Indole (HMDB0000738) Feces0-132368.285 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Isopentanol (HMDB0006007) Feces0-185974.681 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Isobutyric acid (HMDB0001873) Feces0-82477.253 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Isocaproic acid (HMDB0000689) Feces0-11277.713 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Methyl butyrate (HMDB0033890) Feces0-473702.0925 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Nonanal (HMDB0059835) Feces0-175854.749 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Octanal (HMDB0001140) Feces0-24412.691 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Octanoylcarnitine (HMDB0000791) Feces0-11899.994 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Octyl acetate (HMDB0038602) Feces0-20182.131 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Octyl butanoate (HMDB0034136) Feces0-32132.275 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
p-Cresol (HMDB0001858) Feces0-3012051.907 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Valeric acid (HMDB0000892) Feces0-661531.467 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Phenol (HMDB0000228) Feces0-16434.459 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
2-Phenylethanol (HMDB0033944) Feces0-71406.509 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Propionic acid (HMDB0000237) Feces0-725626.644 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Propyl acetate (HMDB0034237) Feces0-31201.543 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Propyl butyrate (HMDB0039618) Feces0-264854.0653 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Propyl propionate (HMDB0030059) Feces0-509764.118 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Styrene (HMDB0034240) Feces0-315189.153 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Tetradecanal (HMDB0034283) Feces0-202726.511 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Tetradecane (HMDB0059907) Feces0-52808.974 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Tetradecanol (HMDB0011638) Feces0-1246326.354 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Thiophene (HMDB0029718) Feces0-49401.791 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
Tridecanol (HMDB0013316) Feces0-256720.210 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
alpha-Cubebene (HMDB0036413) Feces0-41203.595 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
D-Citronellol (HMDB0035093) Feces0-717668.852 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
L-Citronellol (HMDB0035094) Feces0-717668.852 nmol/g wet fecesAbnormalChildren (1-13 years old)Not Specified details
L-Proline (HMDB0000162) FecesNot QuantifiedAbnormalChildren (1-13 years old)Both details
L-Asparagine (HMDB0000168) FecesNot QuantifiedAbnormalChildren (1-13 years old)Both details
L-Histidine (HMDB0000177) FecesNot QuantifiedAbnormalChildren (1-13 years old)Both details
Tyramine (HMDB0000306) FecesNot QuantifiedAbnormalChildren (1-13 years old)Both details
L-Methionine (HMDB0000696) FecesNot QuantifiedAbnormalChildren (1-13 years old)Both details
Trimethylamine N-oxide (HMDB0000925) FecesNot QuantifiedAbnormalChildren (1-13 years old)Both details
L-Tryptophan (HMDB0000929) FecesNot QuantifiedAbnormalChildren (1-13 years old)Both details
L-Proline (HMDB0000162) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
L-Asparagine (HMDB0000168) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
L-Histidine (HMDB0000177) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Tyramine (HMDB0000306) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
L-Methionine (HMDB0000696) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Trimethylamine N-oxide (HMDB0000925) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
L-Tryptophan (HMDB0000929) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Propyl propionate (HMDB0030059) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Ethyl acetate (HMDB0031217) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Octyl acetate (HMDB0038602) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Propyl butyrate (HMDB0039618) FecesNot QuantifiedAbnormalChildren (1-13 years old)Not Specified details
Menthol (HMDB0003352) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Propyl alcohol (HMDB0000820) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Butanone (HMDB0000474) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
xi-2-Ethyl-1-hexanol (HMDB0031231) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
2-Hexanol (HMDB0061886) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
2-Pentylfuran (HMDB0013824) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Methyl isobutyl ketone (HMDB0002939) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Benzene (HMDB0001505) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
beta-Caryophyllene (HMDB0036792) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Hexadecane (HMDB0033792) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Nonadecane (HMDB0034289) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Nonanal (HMDB0059835) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Octanal (HMDB0001140) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Pentadecane (HMDB0059886) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Tetradecane (HMDB0059907) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Toluene (HMDB0034168) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Ethanol (HMDB0000108) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Phenol (HMDB0000228) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Chloroform (HMDB0029596) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Ethyl acetate (HMDB0031217) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
4-Methyl-3-penten-2-one, 9CI (HMDB0031563) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Octyl 2-methylbutyrate (HMDB0036219) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Carbon disulfide (HMDB0036574) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
1-Isopropyl-2-methylbenzene (HMDB0037050) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
2-Pentylthiophene (HMDB0040240) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Hemimellitene (HMDB0059901) SalivaNot QuantifiedAbnormalChildren (1-13 years old)Both details
Cerebral creatine deficiency syndrome 1  (300352 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Creatine (HMDB0000064) Blood75 uMAbnormalChildren (1-13 years old)Male details
Guanidoacetic acid (HMDB0000128) Blood1.1 uMAbnormalChildren (1-13 years old)Male details
Creatine (HMDB0000064) Urine220 umol/mmol creatinineAbnormalChildren (1-13 years old)Male details
Guanidoacetic acid (HMDB0000128) Urine74 umol/mmol creatinineAbnormalChildren (1-13 years old)Male details
Cerebral creatine deficiency syndrome 2  (612736 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
L-Lactic acid (HMDB0000190) Blood1000-3700 uMAbnormalChildren (1-13 years old)Female details
Uric acid (HMDB0000289) Blood170-270 uMAbnormalAdult (>18 years old)Female details
Creatinine (HMDB0000562) Blood33-37 uMAbnormalAdult (>18 years old)Female details
Ammonia (HMDB0000051) Blood65-145 uMAbnormalChildren (1-13 years old)Female details
Guanidoacetic acid (HMDB0000128) Blood17.3-27.0 uMAbnormalAdult (>18 years old)Female details
Creatinine (HMDB0000562) Blood18 uMAbnormalChildren (1-13 years old)Female details
L-Lactic acid (HMDB0000190) Cerebrospinal Fluid (CSF)1200-2600 uMAbnormalChildren (1-13 years old)Female details
Guanidoacetic acid (HMDB0000128) Cerebrospinal Fluid (CSF)11.0-12.4 uMAbnormalAdult (>18 years old)Female details
Uric acid (HMDB0000289) Urine75-277 umol/mmol creatinineAbnormalAdult (>18 years old)Female details
Creatinine (HMDB0000562) Urine680-3150 uMAbnormalAdult (>18 years old)Female details
Guanidoacetic acid (HMDB0000128) Urine614-1624 umol/mmol creatinineAbnormalAdult (>18 years old)Female details
Cerebral creatine deficiency syndrome 3  (612718 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Creatine (HMDB0000064) Blood1 uMAbnormalChildren (1-13 years old)Female details
Guanidoacetic acid (HMDB0000128) Blood0.2-0.3 uMAbnormalChildren (1-13 years old)Female details
Creatine (HMDB0000064) Urine31-40 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
Guanidoacetic acid (HMDB0000128) Urine0.9-2.6 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
Cerebral folate transport deficiency  (613068 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
5-Methyltetrahydrofolic acid (HMDB0001396) Cerebrospinal Fluid (CSF)0.00700-0.0110 uMAbnormalChildren (1-13 years old)Both details
Cerebral infarction
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Prostaglandin B2 (HMDB0004236) Cerebrospinal Fluid (CSF)0.0000004488 uMAbnormalNot SpecifiedNot Specified details
Norepinephrine (HMDB0000216) Cerebrospinal Fluid (CSF)0.000757 +/- 0.000266 uMAbnormalAdult (>18 years old)Not Specified details
Norepinephrine (HMDB0000216) Cerebrospinal Fluid (CSF)0.00101 uMAbnormalAdult (>18 years old)Not Specified details
Epinephrine (HMDB0000068) Cerebrospinal Fluid (CSF)0.000147 +/- 0.000109 uMAbnormalAdult (>18 years old)Not Specified details
Epinephrine (HMDB0000068) Cerebrospinal Fluid (CSF)0.000109 uMAbnormalAdult (>18 years old)Not Specified details
Dopamine (HMDB0000073) Cerebrospinal Fluid (CSF)0.000268 +/- 0.000124 uMAbnormalAdult (>18 years old)Not Specified details
Dopamine (HMDB0000073) Cerebrospinal Fluid (CSF)0.000300 uMAbnormalAdult (>18 years old)Not Specified details
Dihydrouracil (HMDB0000076) Urine2.4 +/- 2.00 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Uracil (HMDB0000300) Urine5.00 +/- 4.00 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Cerebral vasospasm
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Bilirubin (HMDB0000054) Cerebrospinal Fluid (CSF)17.3 +/- 12.4 uMAbnormalAdult (>18 years old)Both details
20-Hydroxyeicosatetraenoic acid (HMDB0005998) Cerebrospinal Fluid (CSF)0.009 +/-0.23 uMAbnormalAdult (>18 years old)Both details
12-HETE (HMDB0006111) Cerebrospinal Fluid (CSF)Not QuantifiedAbnormalAdult (>18 years old)Both details
Displaying diseases 121 - 130 of 660 in total