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Displaying diseases 561 - 570 of 660 in total
Pyridoxine-dependent epilepsy  (266100 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Pipecolic acid (HMDB0000070) Blood2.8-23 uMAbnormalInfant (0-1 year old)Not Specified details
gamma-Aminobutyric acid (HMDB0000112) Cerebrospinal Fluid (CSF)0.016 uMAbnormalInfant (0-1 year old)Not Specified details
Allysine (HMDB0001263) Urine1.6-28 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Specified details
Pyruvate carboxylase deficiency  (266150 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
L-Lactic acid (HMDB0000190) Blood11300 uMAbnormalChildren (1-13 years old)Not Available details
L-Lactic acid (HMDB0000190) Blood17000 uMAbnormalInfant (0-1 year old)Not Available details
Ammonia (HMDB0000051) Blood70 uMAbnormalChildren (1-13 years old)Not Available details
Ammonia (HMDB0000051) Blood268 uMAbnormalInfant (0-1 year old)Not Available details
L-Alanine (HMDB0000161) Blood958 uMAbnormalInfant (0-1 year old)Not Available details
L-Alanine (HMDB0000161) Blood298 uMAbnormalChildren (1-13 years old)Not Available details
L-Proline (HMDB0000162) Blood801 uMAbnormalInfant (0-1 year old)Not Available details
L-Proline (HMDB0000162) Blood114 uMAbnormalChildren (1-13 years old)Not Available details
L-Lysine (HMDB0000182) Blood713 uMAbnormalInfant (0-1 year old)Not Available details
L-Lysine (HMDB0000182) Blood136 uMAbnormalChildren (1-13 years old)Not Available details
L-Lactic acid (HMDB0000190) Urine>75000 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Available details
L-Lactic acid (HMDB0000190) Urine59000 umol/mmol creatinineAbnormalChildren (1-13 years old)Not Available details
3-Hydroxybutyric acid (HMDB0000011) Urine45000 umol/mmol creatinineAbnormalChildren (1-13 years old)Not Available details
3-Hydroxybutyric acid (HMDB0000011) Urine8359 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Available details
Pyruvate dehydrogenase deficiency  (312170 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
L-Lactic acid (HMDB0000190) Blood7020 +/- 5800 uMAbnormalChildren (1-13 years old)Both details
Pyruvic acid (HMDB0000243) Blood560 +/- 830 uMAbnormalChildren (1-13 years old)Both details
L-Lactic acid (HMDB0000190) Cerebrospinal Fluid (CSF)6070 +/- 3000 uMAbnormalChildren (1-13 years old)Both details
Pyruvic acid (HMDB0000243) Cerebrospinal Fluid (CSF)480 +/- 270 uMAbnormalChildren (1-13 years old)Both details
2-Hydroxybutyric acid (HMDB0000008) Urine>25.0 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Pyruvate dehydrogenase deficiency (E1)
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
L-Lactic acid (HMDB0000190) Blood9900 +/- 8200 uMAbnormalChildren (1-13 years old)Both details
Pyruvic acid (HMDB0000243) Blood670 +/- 990 uMAbnormalChildren (1-13 years old)Both details
L-Lactic acid (HMDB0000190) Cerebrospinal Fluid (CSF)5900 +/- 4500 uMAbnormalChildren (1-13 years old)Both details
Pyruvic acid (HMDB0000243) Cerebrospinal Fluid (CSF)570 +/- 400 uMAbnormalChildren (1-13 years old)Both details
Pyruvate dehydrogenase phosphatase deficiency  (608782 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Hydrogen carbonate (HMDB0000595) Blood3500 uMAbnormalInfant (0-1 year old)Male details
Acetoacetic acid (HMDB0000060) Blood360 uMAbnormalInfant (0-1 year old)Male details
L-Alanine (HMDB0000161) Blood1000 uMAbnormalInfant (0-1 year old)Male details
L-Lactic acid (HMDB0000190) Blood15000 uMAbnormalInfant (0-1 year old)Male details
Pyruvic acid (HMDB0000243) Blood400 uMAbnormalInfant (0-1 year old)Male details
3-Hydroxybutyric acid (HMDB0000011) Blood1800 uMAbnormalInfant (0-1 year old)Male details
Quetiapine poisoning
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Quetiapine (HMDB0005021) Blood20.7 (1.04-198.0) uMAbnormalAdult (>18 years old)Both details
Rachialgia
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Guanosine diphosphate (HMDB0001201) Cerebrospinal Fluid (CSF)2.11 +/- 1.93 uMAbnormalAdult (>18 years old)Both details
Guanosine triphosphate (HMDB0001273) Cerebrospinal Fluid (CSF)1.59 +/- 1.42 uMAbnormalAdult (>18 years old)Both details
ADP (HMDB0001341) Cerebrospinal Fluid (CSF)1.10 +/- 0.60 uMAbnormalAdult (>18 years old)Both details
Adenosine triphosphate (HMDB0000538) Cerebrospinal Fluid (CSF)0.23 +/- 0.19 uMAbnormalAdult (>18 years old)Both details
Refractory anemia
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
AICA-riboside (HMDB0062179) Urine0.025 +/- 0.015 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Refractory localization-related epilepsy
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
L-Cystine (HMDB0000192) Blood37.2 (34.6-39.8) uMAbnormalAdult (>18 years old)Both details
Glycine (HMDB0000123) Blood210.0 (203.0-217.0) uMAbnormalAdult (>18 years old)Both details
L-Lysine (HMDB0000182) Blood128.0 +/- 9.0 uMAbnormalAdult (>18 years old)Both details
L-Serine (HMDB0000187) Blood104.0 (101.0-107.0) uMAbnormalAdult (>18 years old)Both details
Refsum's disease  (266500 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexDetails
Phytanic acid (HMDB0000801) Blood410.0 (46.0-1127.0) uMAbnormalAdult (>18 years old)Both details
Pipecolic acid (HMDB0000070) Blood<3.871 uMAbnormalInfant (0-1 year old)Not Specified details
3alpha,7alpha-Dihydroxycoprostanic acid (HMDB0000359) Blood0.403 - 0.842 uMAbnormalChildren (1 - 13 years old)Male details
Coprocholic acid (HMDB0000601) Blood0.719 - 0.828 uMAbnormalChildren (1 - 13 years old)Male details
Phytanic acid (HMDB0000801) Blood1439.86 uMAbnormalInfant (0-1 year old)Not Specified details
Phytanic acid (HMDB0000801) Blood6335.384 uMAbnormalInfant (0-1 year old)Not Specified details
Phytanic acid (HMDB0000801) Blood0-2335.773 uMAbnormalAdult (>18 years old)Not Specified details
Methylsuccinic acid (HMDB0001844) Urine1.9 (1.3-2.5) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
3-Methyladipic acid (HMDB0000555) Urine5.9 (3.0-8.5) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Displaying diseases 561 - 570 of 660 in total