Browsing Diseases
3-Methylglutaconic Aciduria type VI (614739 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
L-Lactic acid (HMDB0000190) | Urine | 0.000950-0.0260 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
3-Methylglutaconic acid (HMDB0000522) | Urine | 0.0160-0.196 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
3-Hydroxyisovaleric acid (HMDB0000754) | Urine | 0.0100-0.0460 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
3-Methylglutaconic aciduria type VII (616271 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
3-Methylglutaconic acid (HMDB0000522) | Urine | 29-109 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Female | details |
3-Methylglutaconic acid (HMDB0000522) | Urine | 34-160 umol/mmol creatinine | Abnormal | Adolescent (13-18 years old) | Female | details |
3-Methylglutaconic acid (HMDB0000522) | Urine | 52-93 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Female | details |
3-Phosphoglycerate dehydrogenase deficiency (601815 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Glycine (HMDB0000123) | Blood | 175-252 uM | Abnormal | Adolescent (13-18 years old) | Both | details |
L-Serine (HMDB0000187) | Blood | 56-63 uM | Abnormal | Adolescent (13-18 years old) | Both | details |
Glycine (HMDB0000123) | Cerebrospinal Fluid (CSF) | 5 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
L-Serine (HMDB0000187) | Cerebrospinal Fluid (CSF) | 9 uM | Abnormal | Adolescent (13-18 years old) | Male | details |
5-oxoprolinase deficiency (260005 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Pyroglutamic acid (HMDB0000267) | Urine | 28.8 (3.4-54.2) umol/mmol creatinine | Abnormal | Adult (>18 years old) | Both | details |
Pyroglutamic acid (HMDB0000267) | Urine | 3500.0 (1000.0-6000.0) umol/mmol creatinine | Abnormal | Children (1-13 years old) | Both | details |
Pyroglutamic acid (HMDB0000267) | Urine | 5570 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Not Specified | details |
Pyroglutamic acid (HMDB0000267) | Urine | 1980 - 6040 umol/mmol creatinine | Abnormal | Infant (0-1 year old) | Not Specified | details |
6-Pyruvoyltetrahydropterin synthase deficiency (261640 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
L-Phenylalanine (HMDB0000159) | Blood | 360-1200 uM | Abnormal | Newborn (0-30 days old) | Both | details |
Biopterin (HMDB0000468) | Urine | 0.19-0.63 umol/mmol creatinine | Abnormal | Newborn (0-30 days old) | Both | details |
Abetalipoproteinemia (200100 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Glucosylceramide (HMDB0000140) | Blood | 4.0 (3.9-4.4) uM | Abnormal | Adult (>18 years old) | Both | details |
LacCer(d18:1/12:0) (HMDB0004866) | Blood | 3.0 (2.9-3.3) uM | Abnormal | Adult (>18 years old) | Both | details |
Trihexosylceramide (d18:1/12:0) (HMDB0004877) | Blood | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both | details |
Trihexosylceramide (d18:1/18:0) (HMDB0004880) | Blood | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both | details |
Trihexosylceramide (d18:1/22:0) (HMDB0004882) | Blood | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both | details |
Trihexosylceramide (d18:1/24:0) (HMDB0004886) | Blood | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both | details |
Trihexosylceramide (d18:1/26:1(17Z)) (HMDB0004884) | Blood | 1.0 (0.6-1.7) uM | Abnormal | Adult (>18 years old) | Both | details |
Tetrahexosylceramide (d18:1/12:0) (HMDB0004958) | Blood | 1.5 (1.0-2.2) uM | Abnormal | Adult (>18 years old) | Both | details |
Ganglioside GM3 (d18:1/16:0) (HMDB0004844) | Blood | 4.0 (3.0-5.2) uM | Abnormal | Adult (>18 years old) | Both | details |
Cholesterol (HMDB0000067) | Blood | 2190 uM | Abnormal | Adult (>18 years old) | Male | details |
alpha-Tocopherol (HMDB0001893) | Blood | 0.00302 uM | Abnormal | Adult (>18 years old) | Male | details |
Vitamin A (HMDB0000305) | Blood | 0.45 uM | Abnormal | Adult (>18 years old) | Male | details |
Aceruloplasminemia (604290 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Copper (HMDB0000657) | Blood | 6.295-7.868 uM | Abnormal | Adult (>18 years old) | Female | details |
Iron (HMDB0015531) | Blood | 5.551-6.625 uM | Abnormal | Adult (>18 years old) | Female | details |
Acrodermatitis enteropathica (201100 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Zinc (HMDB0015532) | Blood | 3.516 uM | Abnormal | Children (1-13 years old) | Male | details |
Zinc (HMDB0015532) | Urine | 11.619 umol/mmol creatinine | Abnormal | Children (1-13 years old) | Male | details |
ACTH deficiency, isolated (201400 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
Cortisol (HMDB0000063) | Blood | 0.34 (0.028-0.66) uM | Abnormal | Adult (>18 years old) | Both | details |
Cortisol (HMDB0000063) | Blood | <0.1 uM | Abnormal | Adult (>18 years old) | Female | details |
Cortisol (HMDB0000063) | Blood | 0.22 uM | Abnormal | Children (1-13 years old) | Male | details |
Acute Infantile Liver Failure (613070 )
Metabolite | Biospecimen | Concentration | Patient Status | Age | Sex | Details |
---|---|---|---|---|---|---|
L-Lactic acid (HMDB0000190) | Blood | 3200-30000 uM | Abnormal | Infant (0-1 year old) | Not Specified | details |
L-Lactic acid (HMDB0000190) | Blood | 7000-20000 uM | Abnormal | Newborn (0-30 days old) | Not Specified | details |