Metabolic Screen, Random Urine

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

Creatinine; Glucose; Ketones; 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

Urine (Random)

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.