|
Compounds
|
Compound
|
Mean
SD
mM/M creatinine |
Cause
of High Value
|
|
| LACTIC ACID | 101.0 | 89.0 | hypoxia,
hypoperfusion, exertion, lactic acidemias, mitochondrial defects |
| PYRUVIC ACID | 21.0 | 21.0 | lactic acidemias, thiamine deficiency |
| GLYCOLIC ACID | 16.0 | 20.0 | fruit
juice, thiamine deficiency, Primary Hyperoxaluria Type I |
| ALPHA-OH-BUTYRIC | 1.7 | 2.5 | Severe ketosis |
| OXALIC | 6.7 | 11.0 | Gastroenteritis
(calcium bound to unabsorbed FFA's, oxalate lost in urine, oxalurias,ethylene glycol poisoning |
| 4-OH-BUTYRIC | 1.2 | 4.7 | Drug
of abuse, "date rape drug" GHB (weightlifters),succinate semi-aldehyde deficiency |
| HEXANOIC ACID | 8.1 | 10.7 | Fatty acid oxidation defects, eg. MCAD |
| 5-HYDROXYCAPROIC | 1.1 | 1.1 | Riboflavin, ETF or Complex II defects MCT intake |
| OCTANOIC | 2.2 | 4.3 | Fatty acid oxidation defects, eg. MCAD |
| BETA-LACTATE | 5.5 | 10.7 | Volatile
fatty acids, biotin deficiency or dysmetabolism, Propionic Acidemias |
| SUCCINIC ACID | 34.0 | 40.0 | Riboflavin,
ETF or Complex II defect SCAD deficiency , volatile fatty acid |
| GLUTARIC ACID | 1.3 | 1.8 | Riboflavin,
ETF or Complex II defect MCT intake, Glutaric acidemias |
| 2-OXO-GLUTARATE | 460.0 | 547.0 | Acidosis,
CoA deficiency (in valproate or MCT treatment, mitochondrial defects |
| FUMARIC | 1.9 | 1.9 | Severe
acidosis, mitochondrial defects, Fumaric Acidemia |
| MALEIC | 1.0 | 2.6 | Rare |
| MALIC ACID | 3.3 | 3.6 | Acidosis, mitochondrial defects |
| ADIPIC ACID | 7.1 | 6.5 | MCT
oil use, Fever, diet intake, riboflavin or CoA deficiency, Fatty Acid Oxidation defect |
| SUBERIC ACID | 5.4 | 6.5 | Same as Adipic |
| SEBACIC ACID | 4.0 | 6.9 | Same as Adipic |
| GLYCERIC ACID | 5.0 | 6.0 | Hyperoxaluria, Type II, riboflavin deficiency |
| BETA-OH-BUTYRIC | 2.2 | 3.0 | Ketosis, organic acidemias |
| METHYLSUCCINIC | 0.5 | 1.0 | Same as succinic |
| METHYLMALONIC | 2.2 | 5.1 | Vitamin B12 def., Methylmalonic Acidemias |
| ETHYLMALONIC | 3.9 | 9.2 | Same as Succinic |
| HOMOGENTISIC ACID | 0.1 | 0.3 | Alcaptonuria |
| PHENYLPYRUVIC ACID | 0.4 | 0.5 | Phenylketonuria |
| SUCCINYLACETONE | 2.3 | 3.7 | Tyrosinemia (Hepatorenal) |
| 3-OH-ISOVALERIC | 8.7 | 8.7 | Biotin, biotinidase or holocarboxylase deficiency, use of valproate |
| PHOSPHATE | 1513 | 1033 | Dietary intake, bone loss, Fanconi Syndrome |
| CITRIC ACID | 235 | 65 | Present in all samples |
| HIPPURIC ACID | 251 | 515 | Benzoic acid intake |
| URIC ACID | 158 | 156 | Tissue catabolism |
| PYROGLUTAMIC ACID | 50 | 32 | Glutathione Synthase Deficiency |
| Nutritionals | |||
| FORMIMINOGLUTAMIC | 3.0 | 6.1 | Folic acid deficiency, genetic FIGLUuria |
| 4-PYRIDOXIC ACID | 1.5 | 3.3 | Pyridoxine intake |
| PANTOTHENIC ACID | 33.0 | 45.0 | Vitamin Intake |
| XANTHURENIC ACID | 0.2 | 0.4 | Pyridoxine deficiency |
| KYNURENINE | 1.2 | 1.5 | Pyridoxine deficiency |
| QUINOLINIC | 1.6 | 4.2 | Gastroenteritis (as for oxalate) Pyridoxine and niacin deficiency |
| OROTIC ACID | 0.6 | 1.5 | Nitrogen overload, hyperammonemia, Urea cycle defects beyond CPS I Orotic acidemia |
| D-AM LEVULINIC | 26.5 | 31.8 | Lead Poisoning, Tyrosinemia |
| 3-METHYL HISTIDINE | 72.0 | 89.0 | Muscle catabolism |
| NIACINAMIDE | 3.9 | 4.6 | Vitamin Intake |
| PSEUDOURIDINE | 186.0 | 164.0 | t-RNA turnover (Protein Synthesis) |
| 2-DEOXYTETRONIC | 84.0 | 84.0 | Microbial carbohydrate fermentation |
| p-OH-PHENYLACETIC | 8.0 | 7.0 | Protein malabsorption, anaerobe overgrowth,Reduced hepatic clearance |
| XANTHINE | 15.0 | 21.0 | Nitric Oxide-ATP interaction (Gastroenteritis,hypoxia,seizures) Molybdenum Cofactor def. |
| UROCANIC ACID | 2.0 | 3.0 | Rare |
| ASCORBIC ACID | 183.0 | 260.0 | Intake or release of adrenal stores |
| GLYCEROL | 8.2 | 9.9 | Contamination from disposable syringes or Glycerol Kinase Deficiency |
| Carbohydrates | |||
| THREITOL | 19.0 | 16.0 | Diet, breakdown of other carbohydrates |
| ERYTHRITOL | 29.0 | 15.0 | Same as threitol |
| ARABINOSE | 22.0 | 26.0 | Diet or fungal production |
| FUCOSE | 10.2 | 11.0 | Blood group substance |
| RIBOSE | 7.3 | 7.1 | Diet |
| XYLOSE | 33.0 | 40.0 | Diet |
| FRUCTOSE | 121.0 | 375.0 | Diet, hereditary fructose intolerance |
| GLUCOSE | 65.0 | 50.0 | Diet, intravenous solutions, diabetes or renal glucosuria |
| GALACTOSE | 82.0 | 103.0 | Diet, Galactosemias |
| MANNOSE | 51.0 | 123.0 | Rare |
| N-Ac-GLUCOSAMINE | 2.5 | 3.0 | Rare |
| LACTOSE | 132.0 | 256.0 | Diet, lactose intolerance |
| MALTOSE | 36.0 | 38.0 | Rare |
| XYLITOL | 17.1 | 15.0 | Diet |
| ARABINITOL | 13.2 | 20.3 | Diet or fungal production |
| RIBITOL | 7.41 | 9.4 | Unknown |
| ALLOSE | 15.6 | 22.3 | Unknown |
| GLUCURONIC ACID | 42.1 | 39.3 | Induced Glucuronylation |
| GALACTONIC ACID | 43.0 | 41.0 | Glucuronylation, Galactosemias |
| GLUCONIC ACID | 15.2 | 20.6 | Therapeutic Gluconates |
| GLUCARIC | 1.0 | 1.4 | Rare |
| MANNITOL | 75.3 | 270.8 | Dehydration, therapeutic use |
| DULCITOL | 23.6 | 71.8 | Galactosemias |
| SORBITOL | 70.1 | 271.8 | Rare |
| INOSITOL | 23.8 | 32.9 | Dehydration |
| SUCROSE | 81.0 | 158.0 | Diet, dilution of formula with sugar |
| Neurotransmitters | |||
| GABA | 0.5 | 0.8 | Vigabatrin use |
| HOMOVANILLIC ACID | 7.8 | 7.9 | Dopamine use, pheo,neuroblastoma |
| NORMETANEPHRINE | 0.5 | 1.2 | Rare |
| VANILLYLMANDELIC | 4.6 | 5.7 | Stress, pheo, neuroblastoma |
| METANEPHRINE | 0.6 | 0.9 | Rare |
| 5-HIAA | 3.6 | 5.5 | Unknown |
| MHPG | 0.3 | 0.5 | Rare |
| ETHANOLAMINE | 82.0 | 80.0 | Parasympathetic stimulation (from breakdown of choline) |
| Amino Acids and Glycine Conjugates | |||
| PROPIONYLGLYCINE | 0.1 | 0.1 | Propionic acidemias |
| BUTYRYLGLYCINE | 0.9 | 0.8 | SCAD deficiency, MADD |
| HEXANOYLGLYCINE | 0.2 | 0.5 | MCAD deficiency, MADD |
| PHENYLPROPIONYLGLYCINE | 0.1 | 0.4 | MCAD deficiency |
| SUBERYLGLYCINE | 0.6 | 1.0 | MCAD deficiency, or high suberic |
| ISOVALERYLGLYCINE | 0.1 | 0.2 | Isovaleric Acidemia |
| TIGLYGLYCINE | 0.7 | 1.3 | Thiolase deficiencies |
| b-METHYLCROTONYLGLYCINE | 0.7 | 0.8 | 3-methylglutaconic acidurias |
| GLYCINE | 671 | 489 | Glycinemias, valproate use |
| ALANINE | 172 | 103 | Hartnup, Fanconi, Organic acidemias |
| SARCOSINE | 10.3 | 10.6 | Riboflavin type defects |
| BETA-ALANINE | 4.2 | 8.0 | Rare |
| B-AMINOISOBUTYRIC | 52.0 | 66.0 | Transaminase deficiency (Common)Tissue catabolism) |
| SERINE | 117 | 110 | Fanconi, Hartnup |
| PROLINE | 54.8 | 63.5 | Iminoaciduria, Prolidase def. |
| HYDROXYPROLINE | 155 | 150 | Iminoacidurias, tissue catabolism |
| HYDROXYLYSINE | 1.9 | 4.2 | Rare |
| ASPARTIC ACID | 15.4 | 16.4 | Acidosis, part of citrate superfamily |
| ASPARAGINE | 3.2 | 5.4 | same as aspartic |
| N-AC ASPARTIC | 7.9 | 16.7 | Canavan's Disease |
| ORNITHINE | 3.5 | 3.7 | Dibasic aminoacidurias |
| GLUTAMIC ACID | 12.8 | 16.8 | Acidosis, part of citrate superfamily |
| GLUTAMINE | 258 | 226 | Acidosis, part of citrate superfamily |
| PIPECOLIC ACID | 1.9 | 2.9 | Zellweger Syndrome, peroxisomal defects |
| LEUCINE | 14.8 | 15.9 | Fanconi, Hartnup's, MSUD |
| KETO LEUCINE | 0.1 | 0.3 | MSUD, prolonged hypoxia |
| VALINE | 18.6 | 17.9 | Fanconi, Hartnup's, MSUD |
| KETO-VALINE | 0.1 | 1 | MSUD, prolonged hypoxia |
| ISOLEUCINE | 5.2 | 6.8 | Fanconi, Hartnups, MSUD |
| KETO-ISOLEUCINE | 0.3 | 0.7 | MSUD, prolonged hypoxia |
| LYSINE | 58.0 | 107.0 | Dibastic aminoaciduria |
| HISTIDINE | 171.0 | 145.0 | Histidinemia, dibasic amionoaciduria |
| THREONINE | 56.0 | 59.0 | Fanconi's |
| HOMOSERINE | 1.5 | 1.5 | Rare |
| METHIONINE | 2.5 | 7.8 | Hepatic failure |
| CYSTEINE | 123.7 | 87.3 | Bladder-Urinary infection |
| HOMOCYSTEINE | 0.4 | 0.6 | Homocystinuria, folate deficiency |
| CYSTATHIONINE | 3.7 | 9.2 | Cystathioninuria |
| HOMOCYSTINE | 0.6 | 0.7 | Homocystinuria |
| CYSTINE | 5.3 | 8.8 | Cystinosis, dibasic aminoaciduria |
| PHENYLALANINE | 22.0 | 22.0 | hepatic failure, phenylketonuria |
| TYROSINE | 32.0 | 29.0 | Tyrosinemia |
| TRYPTOPHAN | 17.0 | 16.0 | Fanconi, Hartnup's |
| CREATININE | 1.8 | 1.4 | If<1.0:renal compromise |