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Displaying diseases 21 - 30 of 652 in total
3-Methylglutaconic Aciduria type VI  (614739 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
L-Lactic acid (HMDB0000190) Urine0.000950-0.0260 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
3-Methylglutaconic acid (HMDB0000522) Urine0.0160-0.196 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
3-Hydroxyisovaleric acid (HMDB0000754) Urine0.0100-0.0460 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
3-Methylglutaconic aciduria type VII  (616271 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
3-Methylglutaconic acid (HMDB0000522) Urine29-109 umol/mmol creatinineAbnormalChildren (1-13 years old)Female details
3-Methylglutaconic acid (HMDB0000522) Urine34-160 umol/mmol creatinineAbnormalAdolescent (13-18 years old)Female details
3-Methylglutaconic acid (HMDB0000522) Urine52-93 umol/mmol creatinineAbnormalInfant (0-1 year old)Female details
3-Phosphoglycerate dehydrogenase deficiency  (601815 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Glycine (HMDB0000123) Blood175-252 uMAbnormalAdolescent (13-18 years old)Both details
L-Serine (HMDB0000187) Blood56-63 uMAbnormalAdolescent (13-18 years old)Both details
Glycine (HMDB0000123) Cerebrospinal Fluid (CSF)5 uMAbnormalAdolescent (13-18 years old)Male details
L-Serine (HMDB0000187) Cerebrospinal Fluid (CSF)9 uMAbnormalAdolescent (13-18 years old)Male details
5-oxoprolinase deficiency  (260005 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Pyroglutamic acid (HMDB0000267) Urine28.8 (3.4-54.2) umol/mmol creatinineAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Pyroglutamic acid (HMDB0000267) Urine3500.0 (1000.0-6000.0) umol/mmol creatinineAbnormalChildren (1-13 years old)Both
  • MetaGene: Metabol...
details
Pyroglutamic acid (HMDB0000267) Urine5,570 umol/mmol creatinineAbnormalChildren (1-13 years old)Not Specified details
Pyroglutamic acid (HMDB0000267) Urine1980 - 6040 umol/mmol creatinineAbnormalInfant (0-1 year old)Not Specified details
6-Pyruvoyltetrahydropterin synthase deficiency  (261640 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
L-Phenylalanine (HMDB0000159) Blood360-1200 uMAbnormalNewborn (0-30 days old)Both details
Biopterin (HMDB0000468) Urine0.19-0.63 umol/mmol creatinineAbnormalNewborn (0-30 days old)Both details
Abetalipoproteinemia  (200100 )
MetaboliteBiospecimenConcentrationPatient 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
Cholesterol (HMDB0000067) Blood2190 uMAbnormalAdult (>18 years old)Male details
alpha-Tocopherol (HMDB0001893) Blood0.00302 uMAbnormalAdult (>18 years old)Male details
Vitamin A (HMDB0000305) Blood0.45 uMAbnormalAdult (>18 years old)Male details
Aceruloplasminemia  (604290 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Copper (HMDB0000657) Blood6.295-7.868 uMAbnormalAdult (>18 years old)Female details
Iron (HMDB0015531) Blood5.551-6.625 uMAbnormalAdult (>18 years old)Female details
Acrodermatitis enteropathica  (201100 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Zinc (HMDB0015532) Blood3.516 uMAbnormalChildren (1-13 years old)Male details
Zinc (HMDB0015532) Urine11.619 umol/mmol creatinineAbnormalChildren (1-13 years old)Male details
ACTH deficiency, isolated  (201400 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
Cortisol (HMDB0000063) Blood0.34 (0.028-0.66) uMAbnormalAdult (>18 years old)Both
  • MetaGene: Metabol...
details
Cortisol (HMDB0000063) Blood<0.1 uMAbnormalAdult (>18 years old)Female details
Cortisol (HMDB0000063) Blood0.22 uMAbnormalChildren (1-13 years old)Male details
Acute Infantile Liver Failure  (613070 )
MetaboliteBiospecimenConcentrationPatient StatusAgeSexReferenceDetails
L-Lactic acid (HMDB0000190) Blood3200-30000 uMAbnormalInfant (0-1 year old)Not Specified details
L-Lactic acid (HMDB0000190) Blood7000-20000 uMAbnormalNewborn (0-30 days old)Not Specified details
Displaying diseases 21 - 30 of 652 in total