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