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Displaying diseases 1 - 25 of 397 in total
11-beta-hydroxylase deficiency  (202010 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
21-Deoxycortisol (HMDB0004030) Blood0.00110 (0.00081 - 0.00196) uMAbnormalAdult (>18 years old)Both details
CE(22:5(7Z,10Z,13Z,16Z,19Z)) (HMDB0010375) Blood3.23 +/- 3.67 uMAbnormalAdult (>18 years old)Both details
Vaccenic acid (HMDB0003231) Blood6.390 +/- 4.279 uMAbnormalAdult (>18 years old)Both details
Fructosamine (HMDB0002030) Blood192 (149–242) uMAbnormalAdult (>18 years old)Both details
2-Aminoadipic aciduria  (204750 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
Aminoadipic acid (HMDB0000510) Blood48.0 uMAbnormalChildren (1-13 years old)Both details
Aminoadipic acid (HMDB0000510) Urine13000 umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
2-hydroxyglutaric aciduria  (236792 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
L-2-Hydroxyglutaric acid (HMDB0000694) Blood0.75 (0.0-1.5) uMAbnormalAdult (>18 years old)Both details
L-2-Hydroxyglutaric acid (HMDB0000694) Blood33.3 (7.0-61.0) uMAbnormalChildren (1-13 years old)Both details
2-ketoadipic acidemia  (245130 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
Oxoadipic acid (HMDB0000225) Urine1.0 (0.0-2.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Aminoadipic acid (HMDB0000510) Blood55.0 (30.0-80.0) uMAbnormalChildren (1-13 years old)Both details
Aminoadipic acid (HMDB0000510) Urine54.2 (9.8-98.6) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
2-Hydroxyadipic acid (HMDB0000321) Urine1.0 (0.0-2.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
2-Hydroxyadipic acid (HMDB0000321) Urine135.0 (50.0-220.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
Oxoadipic acid (HMDB0000225) Urine120.0 (20.0-220.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
2-Ketoglutarate dehydrogenase complex deficiency  (203740 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
Oxoglutaric acid (HMDB0000208) Urine101.0 (50.0-152.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Oxoglutaric acid (HMDB0000208) Urine875.0 (150.0-1600.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
21-hydroxylase deficiency  (201910 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
21-Deoxycortisol (HMDB0004030) Blood0.00234 (0.00008-0.04071) uMAbnormalAdult (>18 years old)Not Specified details
17-Hydroxyprogesterone (HMDB0000374) Blood0.0014 (0.000030-0.0028) uMAbnormalAdult (>18 years old)Both details
17-Hydroxyprogesterone (HMDB0000374) Blood0.016 (0.0090-0.024) uMAbnormalChildren (1-13 years old)Both details
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency  (246450 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
Ammonia (HMDB0000051) Blood1030.0 (60.0-2000.0) uMAbnormalChildren (1-13 years old)Both details
3-Hydroxymethylglutaric acid (HMDB0000355) Urine5600.0 (200.0-11000.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
3-Hydroxyisovaleric acid (HMDB0000754) Urine23.0 (0.0-46.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
3-Hydroxyisovaleric acid (HMDB0000754) Urine2030.0 (60.0-4000.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
3-Methylcrotonylglycine (HMDB0000459) Urine225.0 (0.00-450.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
3-Methylglutaconic acid (HMDB0000522) Urine4.5 (0.00-9.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
3-Methylglutaconic acid (HMDB0000522) Urine5070.0 (140.0-10000.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
Methylglutaric acid (HMDB0000752) Urine3.5 (0.0-7.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Methylglutaric acid (HMDB0000752) Urine507.0 (14.0-1000.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
Adipic acid (HMDB0000448) Urine17.15 (0.00-34.30) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Adipic acid (HMDB0000448) Urine31.0 (12.0-50.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
3-Hydroxyisobutyric aciduria  (236795 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
(S)-3-Hydroxyisobutyric acid (HMDB0000023) Urine17.5 (2.0-33.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
(S)-3-Hydroxyisobutyric acid (HMDB0000023) Urine225.0 (60.0-390.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
3-methyl-crotonyl-glycinuria  (210200 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
Ammonia (HMDB0000051) Blood52.5 (25.0-80.0) uMAbnormalAdult (>18 years old)Both details
Ammonia (HMDB0000051) Blood200.0 (100.0-300.0) uMAbnormalChildren (1-13 years old)Both details
D-Glucose (HMDB0000122) Blood4400.0 (3300.0-5500.0) uMAbnormalAdult (>18 years old)Both details
D-Glucose (HMDB0000122) Blood1750.0 (500.0-3000.0) uMAbnormalChildren (1-13 years old)Both details
3-Hydroxyisovaleric acid (HMDB0000754) Urine30350.0 (1700-59000.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
3-Methylglutaconic aciduria  (250950 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
3-Hydroxyisovaleric acid (HMDB0000754) Blood10.0 (10.0 - 20.0) uMAbnormalAdult (>18 years old)Both details
3-Methylglutaconic aciduria type I  (250950 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
3-Hydroxyisovaleric acid (HMDB0000754) Urine200.0 (150.0-250.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
3-Methylglutaconic acid (HMDB0000522) Urine750.0 (500.0-1000.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
Methylglutaric acid (HMDB0000752) Urine7.5 (5.0-10.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
3-methylglutaconic aciduria type II, X-linked  (302060 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
Pyruvic acid (HMDB0000243) Blood93.5 (27.0-160.0) uMAbnormalAdult (>18 years old)Both details
5-oxoprolinase deficiency  (260005 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
Pyroglutamic acid (HMDB0000267) Urine28.8 (3.4-54.2) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Pyroglutamic acid (HMDB0000267) Urine3500.0 (1000.0-6000.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
Abetalipoproteinemia  (200100 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
Glucosylceramide (HMDB0000140) Blood4.0 (3.9-4.4) uMAbnormalAdult (>18 years old)Both details
Lactosylceramide (d18:1/12:0) (HMDB0004866) Blood3.0 (2.9-3.3) uMAbnormalAdult (>18 years old)Both details
Trihexosylceramide (d18:1/12:0) (HMDB0004877) Blood1.0 (0.6-1.7) uMAbnormalAdult (>18 years old)Both details
Trihexosylceramide (d18:1/18:0) (HMDB0004880) Blood1.0 (0.6-1.7) uMAbnormalAdult (>18 years old)Both details
Trihexosylceramide (d18:1/22:0) (HMDB0004882) Blood1.0 (0.6-1.7) uMAbnormalAdult (>18 years old)Both details
Trihexosylceramide (d18:1/24:0) (HMDB0004886) Blood1.0 (0.6-1.7) uMAbnormalAdult (>18 years old)Both details
Trihexosylceramide (d18:1/26:1(17Z)) (HMDB0004884) Blood1.0 (0.6-1.7) uMAbnormalAdult (>18 years old)Both details
Tetrahexosylceramide (d18:1/12:0) (HMDB0004958) Blood1.5 (1.0-2.2) uMAbnormalAdult (>18 years old)Both details
Ganglioside GM3 (d18:1/16:0) (HMDB0004844) Blood4.0 (3.0-5.2) uMAbnormalAdult (>18 years old)Both details
ACTH deficiency, isolated  (201400 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
Cortisol (HMDB0000063) Blood0.34 (0.028-0.66) uMAbnormalAdult (>18 years old)Both details
Cortisol (HMDB0000063) Blood0.001 (0.00-0.002) uMAbnormalChildren (1-13 years old)Both details
Acute liver disease
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
Enkephalin L (HMDB0001045) Blood0.0014 (0.0008-0.0024) uMAbnormalAdult (>18 years old)Both details
Acute liver failure
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
Glycocholic acid (HMDB0000138) Blood1.5 +/- 1.2 uMAbnormalChildren (1-13 years old)Not Specified details
Acute myelogenous leukemia  (602439 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
Cholesterol (HMDB0000067) Blood3200.0 (2600.0-4100.0) (total cholesterol) uMAbnormalAdult (>18 years old)Both details
D-Glucose (HMDB0000122) Blood6000.0 (5000.0 - 6800.0) uMAbnormalAdult (>18 years old)Both details
Acute promyelocytic leukemia
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
Arsenite (HMDB0011620) Cerebrospinal Fluid (CSF)0.095 (0.0035-0.31) uMAbnormalAdult (>18 years old)Both details
Acute seizures
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
L-Cystine (HMDB0000192) Blood30.1 (24.5-35.7) uMAbnormalAdult (>18 years old)Both details
Addison's Disease  (240200 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
Epinephrine (HMDB0000068) Blood0.00014 +/- 0.000036 uMAbnormalAdult (>18 years old)Male details
Epinephrine (HMDB0000068) Blood0.000077 +/- 0.000025 uMAbnormalAdult (>18 years old)Female details
D-Glucose (HMDB0000122) Blood1750.00 (500.00-3000.00) uMAbnormalChildren (1-13 years old)Both details
Adenosine deaminase deficiency  (102700 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
Deoxyadenosine (HMDB0000101) Urine0.005 (0.000-0.010) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Deoxyadenosine (HMDB0000101) Urine176.0 (167.0-185.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
1-Methyladenine (HMDB0011599) Urine3.15 umol/mmol creatinineAbnormalAdult (>18 years old)Female details
Adenylosuccinate lyase deficiency  (103050 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
Uric acid (HMDB0000289) Cerebrospinal Fluid (CSF)22.0 uMAbnormalAdult (>18 years old)Both details
SAICAR (HMDB0000797) Cerebrospinal Fluid (CSF)921.0 (0.0-1842.0) uMAbnormalAdult (>18 years old)Not Specified details
Succinyladenosine (HMDB0000912) Cerebrospinal Fluid (CSF)477.0 uMAbnormalAdult (>18 years old)Not Specified details
SAICAR (HMDB0000797) Urine214 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Succinyladenosine (HMDB0000912) Urine101-188 umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Adrenal hypoplasia  (300200 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
Cortisol (HMDB0000063) Blood0.001 (0.0-0.002) uMAbnormalChildren (1-13 years old)Both details
Adrenoleukodystrophy  (300100 )
MetaboliteBiofluidConcentrationPatient StatusAgeSexReferenceDetails
L-Pipecolic acid (HMDB0000716) Blood65.0 +/- 63.0 uMAbnormalNewborn (0-30 days old)Both details
Trihydroxycoprostanoic acid (HMDB0002163) Blood10.9 +/- 14.6 uMAbnormalNewborn (0-30 days old)Both details
Hexacosanoic acid (HMDB0002356) Blood9.93 (2.52-16.22) uMAbnormalNewborn (0-30 days old)Both details
Phytanic acid (HMDB0000801) Blood72.0 (64.0-80.0) uMAbnormalChildren (1-13 years old)Both details
Pristanic acid (HMDB0000795) Blood21.0 uMAbnormalNewborn (0-30 days old)Both details
Pipecolic acid (HMDB0000070) Urine3.3 (1.5-5.0) umol/mmol creatinineAbnormalAdult (>18 years old)Both details
Pipecolic acid (HMDB0000070) Urine49.4 (8.4-90.4) umol/mmol creatinineAbnormalChildren (1-13 years old)Both details
Displaying diseases 1 - 25 of 397 in total