Visit Metagene.de!
Summary
ARTEFACTS AND PITFALLS: PHARMACEUTICAL PRODUCTS, INTERFERENCE IN AMINOACID AND ORGANIC ACID ANALYSIS DD
Pitfalls in aminoacid and organic acid analysis and skin biopsy due to 1) metabolites of dietary origin (homocitrulline, anserine, arnosine,methylhistidine, furoyl compounds, adipic acid, dicarboxylic acids (MCT) 2) medications and additives (ampicillin, cephalosporines, valproate, pivalic acid, 2,3-butanediol from ethanol, cyclohexandio, 3-hydroxyisovaleric acid under long-term therapy with anticonvulsants, e.g. phenytoin, vigabatrin, carbamazepine, topiramate, sedation with 4-hydroxybuturic acid, 5-oxoproline under acetaminophen therapy) 3) bacterial overgrowth (D-lactate, cresol, 4-hydroxyphenylacetate, 4-cyclohexanecarboxylate, tyramine, hippuric acid, 3-hydroxypropionate, glutaric acid 4) intoxication (butanone in +-รข-ketothiolase deficiency/neel polish remover) 5)skin-contamination with ointment (glycerol), prilocaine-lidocaine emulsion (EMLA) -> pseudo-lysosomal storage disease
symptoms
Amino acids, plasma
Amino acids, urine
Organic acids, urine
laboratory finding
2,3-Butanediol increasedurine
Glycine0.000.00110.00356.00increasedurinechildhood
Cyclohexandiol increasedurine
Propanediol increasedurine
3-Hydroxyisovaleric acid 0.0046.00increasedurine
Methylcitric acid0.000.00 increasedurineno data
3-Hydroxypropionic acid0.000.00 increasedurineno data
3-Methylcrotonylglycine 0.002.00increasedurine
5-Oxoproline0.00150.00 mmol/mol creatinineurineno data
Glycerol0.000.00 increasedurineno data
Hippuric acid0.000.00 increasedurineno data
2-Aminoadipic acid0.000.00 increasedurineno data
Homocysteine increasedplasma
skin biopsy, abnormal
4-Hydroxybutyric acid increasedserum
5-Oxoproline0.000.00 increasedurineno data
Alanine0.000.00 increasedplasmaall
Lactate/Pyruvate ratio0.000.00 increasedbloodall
Thiamine pyrophosphate0.000.00 increasedurineall
Literature
Clayton BEJenkins P, Round JMPaediatric chemical pathology - clinical tests and reference rangesBlackwell, Oxford001980
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Sweetman LOrganic acid analysisTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00143-1761991
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Sakazume Yet al.A case of middle-aged onset sialidosis type IRinsho Shinkeigaku448541-5442004
Simonaro CMet al.Joint and bone disease in mucopolysaccharidoses VI and VII: identification of new therapeutic targets and biomarkers using animal modelsPediatr Res570701-7072005
Heymans HSWanders RJA, Schutgens RBHPeroxisomal disordersJ Inherit Metab Dis00421-4331995
Wendel UBakkeren J, de Jong J, Bongaerts GGlutaric acid mediated by gut bacteriaJ Inherit Metab Dis180358-3591995
Bose HSet al.The pathophysiology and genetics of congenital lipoid adrenal hyperplasiaN Engl J Med33501870-18781996
Berkovitz GDet al.Familial gynecomastia with increased extraglandular aromatization of plasma carbon19-steroidsJ Clin Invest7501763-17691985
Jaeken Jet al.Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesisEur J Pediatr1480126-1311988
Briones Pet al.Leigh syndrome due to pyruvate dehydrogenase E1alpha deficiency (point mutation R263G) in a spanish boyJ Inherit Metab Dis190795-7961996
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Rouse Bet al.Maternal phenylketonuria collaborative study (MPKUCS) offspring: facial anomalies, malformations, and early neurological sequelaeAm J Med Genet69089-951997