Metabolic Screen, Random Urine

Clinical Utility

Amino acid quantitation can give patterns suggestive of or diagnostic of: generalized aminoaciduria (renal Fanconi syndrome secondary to cystinosis, galactosemia, Lowe syndrome, etc.), dibasic aminoacidurias (lysinuric protein intolerance, cystinuria, lysinuria), iminoglycinuria (including glycinuria secondary to propionic acidemia, non-ketotic hyperglycinemia, hydroxyprolinemia, prolinemia), neutral aminoaciduria (Hartnup disease), some urea cycle defects (including HHH disease, argininemia, argininosuccinic aciduria, citrullinemia), hyper-B-alaninemia, maple syrup urine disease, homocystinuria, Hawkinsinuria, histidinemia, phenylketonuria (not diagnostic), hypophosphatasia.

Purine quantitation can give patterns suggestive of or diagnostic of: phosphoribosylpyrophosphate synthase deficiency/superactivity, adenylosuccinate lyase deficiency, adenosine deaminase deficiency, purine nucleoside phosphorylase deficiency, adenine phosphoribosyl transferase deficiency, hypoxanthine-guanine phosphoribosyl transferase deficiency, xanthine dehydrogenase/oxidase deficiency, molybdenum cofactor deficiency.

Pyrimidine quantitation can give patterns suggestive of or diagnostic of: uridine monophosphate synthase deficiency, thymidine phosphorylase deficiency, dihydropyrimidine dehydrogenase deficiency, dihydropyrimidinase deficiency, ureidopropionase deficiency.

A number of the metabolic disorders detected by this assay accumulate metabolites with low solubility that can crystallize (purines and pyrimidines) or form stones (cystine) in urine. The risk of precipitation is related more to the absolute concentration than the ratio of the concentration to creatinine concentration, so for these analytes the absolute concentration is reported.

Creatine and creatinine quantitation can give results suggestive of creatine synthesis or transport disorders. Ketones are important for the differential diagnosis of many metabolic disorders and can indicate if glucosuria may be secondary to diabetic ketoacidosis.

Method

Various

Method Description

This is a panel of urine tests that includes: quantitation and interpretation of over 40 amino acids (Ultra-performance liquid chromatography, UPLC), quantitation and interpretation of over 20 purine and pyrimidine metabolites (UPLC-mass spectrometry), quantitation and interpretation of creatine and creatine:creatinine ratio (UPLC-mass spectrometry), glucose and ketones (Keto-Diastix®). Interpreted by a Canadian College of Medical Geneticists certified Biochemical Geneticist.

Result Included

Creatinine; tele-methyl-histidine/Cr; Pros-methyl-histidine/Cr; Alanine/Cr; Alloisoleucine/Cr; Alpha-aminoadipic acid/Cr; Alpha-aminobutyric acid/Cr; Anserine/Cr; Arginine/Cr; Asparagine/Cr; Aspartic acid/Cr; Beta-alanine/Cr; Beta-aminoisobutyric acid/Cr; Carnosine/Cr; Citrulline/Cr; Cystathionine/Cr; Cystine/Cr; Ethanolamine/Cr; Gamma-aminobutyric acid/Cr; Glutamic acid/Cr; Glutamine/Cr; Glycine/Cr; Histidine/Cr; Homocystine/Cr; Hydroxylysine/Cr; Hydroxyproline/Cr; Isoleucine/Cr; Leucine/Cr; Lysine/Cr; Methionine/Cr; Ornithine/Cr; Phenylalanine/Cr; Phosphoethanolamine/Cr; Phosphoserine/Cr; Proline/Cr; Sarcosine/Cr; Serine/Cr; Taurine/Cr; Threonine/Cr; Tryptophan/Cr; Tyrosine/Cr; Valine/Cr; Cystine; Creatinine; Creatine; Guanidinoacetic Acid; Creatine/Cr; Guanidinoacetic Acid/Cr; Adenine/Cr; Adenosine/Cr; Succinyladenosine/Cr; Deoxyadenosine/Cr; Deoxyguanosine/Cr; Deoxyinosine/Cr; Guanine/Cr; Guanosine/Cr; Hypoxanthine/Cr; Inosine/Cr; Uric Acid/Cr; Xanthine/Cr; 5-hydroxymethyl-uracil/Cr; Deoxyuridine/Cr; Dihydrothymine/Cr; Dihydrouracil/Cr; N-carbamoyl-beta-alanine/Cr; Orotic acid/Cr; Orotidine/Cr; Pseudouridine/Cr; Thymidine/Cr; Thymine/Cr; Uracil/Cr; Uridine/Cr; 4-hydroxyglutamate; Orotic acid; Uric acid; Xanthine

Aliases/Synonyms

Creatine; Purines; Pyrimidines; Amino Acids; Orotic Acid; Xanthine; Amino acids; Uric acid

Turnaround Time

32 days

Results

Referral Location

Canada

Last Updated

2025-11-11