Sorted By Test Name - Mayo Medical Laboratories

ADM13
61212
studies (enzyme assay, molecular analysis); name and phone number of key contacts who may provide
these studies at Mayo or elsewhere; and a phone number to reach one of the laboratory directors in case
the referring physician has additional questions.
Reference Values:
Control Values Results Expressed as mg/g Creatinine
Range
Ethylmalonic Acid 0.5-20.2
2-Methylsuccinic Acid 0.4-13.8
Glutaric Acid 0.6-15.2
Isobutyrylglycine 0.00-11.0
n-Butyrylglycine 0.1-2.1
2-Methylbutyrylglycine 0.3-7.5
Isovalerylglycine 0.3-14.3
n-Hexanoylglycine 0.2-1.9
n-Octanoylglycine 0.1-2.1
3-Phenylpropionylglycine 0.00-1.1
Suberylglycine 0.00-11.0
trans-Cinnamoylglycine 0.2-14.7
Dodecanedioic Acid (12 DCA) 0.00-1.1
Tetradecanedioic Acid (14 DCA) 0.00-1.0
Hexadecanedioic Acid (16 DCA) 0.00-1.0
Clinical References: 1. Rinaldo P, O'Shea JJ, Coates PM, et al: Medium-chain Acyl-CoA
dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurment of urinary n-hexanoylglycine
and 3-phenylpropionyl-glycine. N Engl J Med 1988;319:1308-1313 2. Rinaldo P, Welch RD, Previs SF,
et al: Ethylmalonic/adipic aciduria: effect of oral medium-chain triglycerides, carnitine, and glycine on
urinary excretion of organic acids, acylcarnitines, and acylglycines. Pediatr Res 1991;30:216-221 3.
Gibson KM, Terry G, Burlingame TG, et al: 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a
new inborn error of L-isoleucine metabolism. Pediatr Res 2000;47:830-833 4. Rinaldo P: Laboratory
diagnosis of inborn errors of metabolism. In Liver Disease in Children. 2nd edition. Edited by FJ Suchy.
Philadelphia, Lippincott, Williams & Wilkins, 2001, pp 171-184 5. Corydon MJ, Vockley G, Rinaldo P,
et al: Role of common variant alleles in the molecular basis of short-chain acyl-CoA dehydrogenase
deficiency. Pediatr Res 2001;49:18-23 6. Rinaldo P, Hahn SH, Matern D: Inborn errors of amino acid,
organic acid, and fatty acid metabolism. In Tietz Textbook of Clinical Chemistry and Molecular
Diagnostics. 4th edition. Edited by CA Burtis, ER Ashwood, DE Bruns. WB Saunders, 2005, pp
2207-2247 7. Rinaldo P: Organic Acids. In Laboratory Guide to the Methods in Biochemical Genetics.
Edited by N Blau, M Duran, KM Gibson. Springer-Verlag Berlin Heidelberg, 2008, pp 137-170
ADAMTS13 Activity and Inhibitor Profile
Clinical Information: Thrombotic thrombocytopenic purpura (TTP), a rare (estimated incidence of
3.7 cases per million) and potentially fatal thrombotic microangiopathy (TMA) syndrome, is characterized
by a pentad of symptoms: thrombocytopenia, microangiopathic hemolytic anemia (intravascular
hemolysis and presence of peripheral blood schistocytes), neurological symptoms, fever, and renal
dysfunction. The large majority of patients initially present with thrombocytopenia and peripheral blood
evidence of microangiopathy, and in the absence of any other potential explanation for such findings,
satisfy criteria for early initiation of plasma exchange, which is critical for patient survival. TTP may
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