异常浓度
biospecimen:Blood
concentration_value:>11100
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Diabetes mellitus
biospecimen:Blood
concentration_value:1000-4100
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Male
patient_information:3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency
biospecimen:Blood
concentration_value:>7000
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Diabetes mellitus
biospecimen:Blood
concentration_value:2800
concentration_units:uM
patient_age:Newborn (0-30 days old)
patient_sex:Male
patient_information:2-Methylbutyryl-CoA dehydrogenase deficiency (SBACDD)
biospecimen:Blood
concentration_value:5828.285-15264.557
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Female
patient_information:21-hydroxylase deficiency
biospecimen:Blood
concentration_value:2997.404
concentration_units:uM
patient_age:Adolescent (13-18 years old)
patient_sex:Female
patient_information:3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
biospecimen:Blood
concentration_value:3743 +/- 1272.9
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Heart Transplant
biospecimen:Blood
concentration_value:3108.419
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Male
patient_information:3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
biospecimen:Blood
concentration_value:2053.777-2220.299
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Both
patient_information:3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
biospecimen:Blood
concentration_value:3890
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Male
patient_information:3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency
biospecimen:Blood
concentration_value:2164.792-2553.344
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Female
patient_information:3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
biospecimen:Blood
concentration_value:1300-1400
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Female
patient_information:3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
biospecimen:Blood
concentration_value:<2600
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Not Specified
patient_information:Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency
biospecimen:Blood
concentration_value:2164.792
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Female
patient_information:Fanconi Bickel syndrome
biospecimen:Blood
concentration_value:42460
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Female
patient_information:Wolcott-Rallison syndrome
biospecimen:Blood
concentration_value:6150 (5000-10090)
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Lipodystrophy
biospecimen:Blood
concentration_value:7830 (5220-10890)
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Lipodystrophy, Congenital Generalized
biospecimen:Blood
concentration_value:390
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Female
patient_information:Long-chain Fatty Acids, Defect in Transport of
biospecimen:Blood
concentration_value:400
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Female
patient_information:Infantile Liver Failure Syndrome 2
biospecimen:Blood
concentration_value:5060 (4670-6560)
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Partial lipodystrophy
biospecimen:Blood
concentration_value:900
concentration_units:uM
patient_age:Newborn (0-30 days old)
patient_sex:Female
patient_information:Phosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic
biospecimen:Blood
concentration_value:800-3200
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Both
patient_information:Phosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic
biospecimen:Blood
concentration_value:2800
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Male
patient_information:Phosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic
biospecimen:Blood
concentration_value:4133.0 +/- 903.7
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Female
patient_information:Pregnancy with fetuses with trisomy 18
biospecimen:Blood
concentration_value:3848.99 +/- 783.5
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Female
patient_information:Pregnancy
biospecimen:Blood
concentration_value:1110.15
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Female
patient_information:Fructose-1,6-bisphosphatase deficiency
biospecimen:Blood
concentration_value:1665.224-2775.374
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Female
patient_information:Hypoglycemia, familial neonatal
biospecimen:Blood
concentration_value:2553.344
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Male
patient_information:Leigh Syndrome
biospecimen:Blood
concentration_value:4194.1 (1229.6)
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Female
patient_information:Early preeclampsia
biospecimen:Blood
concentration_value:3702.2 (713.5)
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Female
patient_information:Pregnancy
biospecimen:Blood
concentration_value:5500.0 +/- 160.0
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Growth hormone deficiency
biospecimen:Blood
concentration_value:900-2200
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Both
patient_information:3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
biospecimen:Blood
concentration_value:6000.0 (5000.0 - 6800.0)
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Acute myelogenous leukemia (AML)
biospecimen:Blood
concentration_value:200-2200
concentration_units:uM
patient_age:Newborn (0-30 days old)
patient_sex:Both
patient_information:3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
biospecimen:Blood
concentration_value:2100-2700
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Male
patient_information:3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
biospecimen:Blood
concentration_value:2220.299
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Female
patient_information:Fructose-1,6-bisphosphatase deficiency
biospecimen:Blood
concentration_value:1665.224
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Female
patient_information:Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
biospecimen:Blood
concentration_value:166.522
concentration_units:uM
patient_age:Newborn (0-30 days old)
patient_sex:Male
patient_information:3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
biospecimen:Blood
concentration_value:1332.180-9436.272
concentration_units:uM
patient_age:Newborn (0-30 days old)
patient_sex:Male
patient_information:Donohue Syndrome
biospecimen:Blood
concentration_value:444.0598-555.0748
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Female
patient_information:Fructose-1,6-bisphosphatase deficiency
biospecimen:Blood
concentration_value:4329.583
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Female
patient_information:Leptin Deficiency or Dysfunction
biospecimen:Blood
concentration_value:943.627
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Female
patient_information:Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
biospecimen:Blood
concentration_value:1909.457 +/- 233.131
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Male
patient_information:Glucagon deficiency
biospecimen:Blood
concentration_value:4995.673-5106.688
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Male
patient_information:Primary Hypomagnesemia
biospecimen:Blood
concentration_value:2775.374-10213.376
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Female
patient_information:Proprotein Convertase 1/3 Deficiency
biospecimen:Blood
concentration_value:2300
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Female
patient_information:3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
biospecimen:Blood
concentration_value:5114.0 +/- 483.0
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Hyperlipidaemia
biospecimen:Blood
concentration_value:3241.19 (898.95)
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Female
patient_information:Pregnancy with fetus having congenital heart defect
biospecimen:Blood
concentration_value:3171.93 (754.22)
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Female
patient_information:Pregnancy
biospecimen:Blood
concentration_value:800-1600
concentration_units:uM
patient_age:Newborn (0-30 days old)
patient_sex:Both
patient_information:3-Hydroxyacyl-CoA dehydrogenase deficiency (SCHAD)
biospecimen:Blood
concentration_value:9300 +/- 5000
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Diabetes and Deafness, Maternally Inherited
biospecimen:Blood
concentration_value:<2600
concentration_units:uM
patient_age:Newborn (0-30 days old)
patient_sex:Both
patient_information:Beckwith-Wiedemann Syndrome
biospecimen:Blood
concentration_value:4312.9 (1783.0)
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Female
patient_information:Late-onset preeclampsia
biospecimen:Blood
concentration_value:6300 +/- 2000
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Diabetes and Deafness, Maternally Inherited
biospecimen:Blood
concentration_value:3362.4 (765.9)
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Female
patient_information:Pregnancy
biospecimen:Blood
concentration_value:6810 (5210-10250)
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Familial partial lipodystrophy
biospecimen:Blood
concentration_value:5535.11(1872.49)
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Heart failure with preserved ejection fraction
biospecimen:Blood
concentration_value:500-5200
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Both
patient_information:Infantile Liver Failure Syndrome 2
biospecimen:Blood
concentration_value:2200
concentration_units:uM
patient_age:Newborn (0-30 days old)
patient_sex:Male
patient_information:2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
biospecimen:Blood
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Schizophrenia
biospecimen:Blood
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Schizophrenia
biospecimen:Blood
concentration_value:4812.499 +/- 288.639
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Both
patient_information:Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
biospecimen:Blood
concentration_value:5112.239 +/- 427.408
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Both
patient_information:Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
biospecimen:Blood
concentration_value:4235.221 +/- 55.507
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Both
patient_information:Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
biospecimen:Blood
concentration_value:4390.642 +/- 316.393
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Both
patient_information:Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency
biospecimen:Blood
concentration_value:5600-7600
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Maturity onset diabetes of the young, type 2
biospecimen:Blood
concentration_value:1750.00 (500.00-3000.00)
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Both
patient_information:Hypoadrenocorticism
biospecimen:Blood
concentration_value:1940 +/- 570
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Both
patient_information:Hyperinsulinemic hypoglycemia, familial, 1, HHF1
biospecimen:Blood
concentration_value:1900 +/- 700
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Both
patient_information:Hyperinsulinemic hypoglycemia, familial, 1, HHF1
biospecimen:Blood
concentration_value:600-1000
concentration_units:uM
patient_age:Newborn (0-30 days old)
patient_sex:Both
patient_information:Hyperinsulinemic hypoglycemia, familial, 1, HHF1
biospecimen:Blood
concentration_value:700-2600
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Not Specified
patient_information:Mitochondrial trifunctional protein deficiency
biospecimen:Blood
concentration_value:1500
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Male
patient_information:Carnitine palmitoyltransferase deficiency I
biospecimen:Blood
concentration_value:2800
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Male
patient_information:3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency
biospecimen:Blood
concentration_value:<100
concentration_units:uM
patient_age:Newborn (0-30 days old)
patient_sex:Male
patient_information:Carnitine palmitoyltransferase deficiency I
biospecimen:Blood
concentration_value:390
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Female
patient_information:Carnitine transporter defect; primary systemic carnitine deficiency
biospecimen:Blood
concentration_value:245.5 (96.0)
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Female
patient_information:Down syndrome pregnancy
biospecimen:Blood
concentration_value:217.3 (73.8)
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Female
patient_information:Pregnancy
biospecimen:Blood
concentration_value:333.0449
concentration_units:uM
patient_age:Newborn (0-30 days old)
patient_sex:Female
patient_information:Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
biospecimen:Blood
concentration_value:555.0748
concentration_units:uM
patient_age:Newborn (0-30 days old)
patient_sex:Female
patient_information:Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete
biospecimen:Blood
concentration_value:4400.0 (3300.0-5500.0)
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:3-methyl-crotonyl-glycinuria
biospecimen:Blood
concentration_value:1750.0 (500.0-3000.0)
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Both
patient_information:3-Methyl-crotonyl-glycinuria
biospecimen:Cerebrospinal Fluid (CSF)
concentration_value:1837.260 +/- 271.980
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Both
patient_information:Glucose transporter type 1 deficiency syndrome
biospecimen:Cerebrospinal Fluid (CSF)
concentration_value:200
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Female
patient_information:Long-chain Fatty Acids, Defect in Transport of
biospecimen:Cerebrospinal Fluid (CSF)
concentration_value:2053.777
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Male
patient_information:Leigh Syndrome
biospecimen:Cerebrospinal Fluid (CSF)
concentration_value:3700.0 (3200.0-4200.0)
concentration_units:uM
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Alzheimer's disease
biospecimen:Cerebrospinal Fluid (CSF)
concentration_value:200
concentration_units:uM
patient_age:Infant (0-1 year old)
patient_sex:Female
patient_information:Carnitine transporter defect; primary systemic carnitine deficiency
biospecimen:Cerebrospinal Fluid (CSF)
concentration_value:1900
concentration_units:uM
patient_age:Children (1-13 years old)
patient_sex:Female
patient_information:GLUT1 deficiency syndrome
biospecimen:Feces
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Male
patient_information:Gout
biospecimen:Feces
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Immunoglobulin A nephropathy (IgAN) progressor
biospecimen:Feces
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Female
patient_information:ankylosing spondylitis
biospecimen:Feces
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Female
patient_information:rheumatoid arthritis
biospecimen:Feces
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Colorectal cancer
biospecimen:Feces
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Colorectal cancer
biospecimen:Feces
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Irritable bowel syndrome
biospecimen:Feces
concentration_value:
concentration_units:
patient_age:Newborn (0-30 days old)
patient_sex:Not Specified
patient_information:Premature neonates
biospecimen:Feces
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Irritable bowel syndrome
biospecimen:Feces
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Ulcerative colitis
biospecimen:Feces
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Not Specified
patient_information:asymptomatic diverticulosis
biospecimen:Feces
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Not Specified
patient_information:symptomatic uncomplicated diverticular disease
biospecimen:Feces
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Colorectal Cancer
biospecimen:Feces
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Ulcerative colitis
biospecimen:Feces
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Colorectal Cancer
biospecimen:Urine
concentration_value:>5550.748
concentration_units:umol/mmol creatinine
patient_age:Children (1-13 years old)
patient_sex:Female
patient_information:Fanconi Bickel syndrome
biospecimen:Urine
concentration_value:19700.0
concentration_units:umol/mmol creatinine
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Diabetes
biospecimen:Urine
concentration_value:79600.0 (68300.0-90900.0)
concentration_units:umol/mmol creatinine
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Diabetes
biospecimen:Urine
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Bladder cancer
biospecimen:Urine
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Schizophrenia
biospecimen:Urine
concentration_value:
concentration_units:
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Schizophrenia
biospecimen:Urine
concentration_value:17449.11 (137.28 - 129930.33)
concentration_units:umol/mmol creatinine
patient_age:Adult (>18 years old)
patient_sex:Both
patient_information:Type 1 diabetes Mellitus
biospecimen:Urine
concentration_value:30.015 +/- 27.82
concentration_units:umol/mmol creatinine
patient_age:Children (1 - 13 years old)
patient_sex:Not Specified
patient_information:Eosinophilic esophagitis
疾病参考
Growth hormone deficiency|Acute myelogenous leukemia|Hyperlipoproteinemia|3-Methyl-crotonyl-glycinuria|Addison's Disease|Early preeclampsia|Pregnancy|Late-onset preeclampsia|Glucagon deficiency|Primary hypomagnesemia|3-Hydroxy-3-methylglutaryl-CoA lyase deficiency|3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency|Short/branched chain acyl-CoA dehydrogenase deficiency|21-Hydroxylase deficiency|3-Hydroxyacyl-CoA dehydrogenase deficiency|Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency|2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency|Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete|Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency|Lipodystrophy|Lipodystrophy, Congenital Generalized|Long-chain Fatty Acids, Defect in Transport of|Infantile Liver Failure Syndrome 2|Partial lipodystrophy|Phosphoenolpyruvate Carboxykinase Deficiency 1, Cytosolic|Fructose-1,6-diphosphatase deficiency|Hypoglycemia, familial neonatal|Leigh's syndrome, subacute necrotizing encephalopathy, SNE|Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration|Donohue Syndrome|Leptin Deficiency or Dysfunction|Proprotein Convertase 1/3 Deficiency|Maturity onset diabetes of the young, type 2|Hyperinsulinemic hypoglycemia, familial, 1, HHF1|Mitochondrial trifunctional protein deficiency|Carnitine palmitoyltransferase I deficiency|Carnitine transporter defect; primary systemic carnitine deficiency|Diabetes and Deafness, Maternally Inherited|Beckwith-Wiedemann Syndrome|Familial partial lipodystrophy|Fanconi Bickel syndrome|Wolcott-Rallison syndrome|Alzheimer's disease|Glucose transporter type 1 deficiency syndrome|Irritable bowel syndrome|Ulcerative colitis|Colorectal cancer|Diverticular disease|Gout|Rheumatoid arthritis|Diabetes mellitus type 2|Diabetes mellitus type 1|Eosinophilic esophagitis|Schizophrenia|