Skip to main content
Erschienen in: Reviews in Endocrine and Metabolic Disorders 1/2018

21.07.2018

Approach to the interpretation of unexpected laboratory results arising in the care of patients with inborn errors of metabolism (IEM)

verfasst von: Andre Mattman, Murray Potter

Erschienen in: Reviews in Endocrine and Metabolic Disorders | Ausgabe 1/2018

Einloggen, um Zugang zu erhalten

Abstract

Endocrinologists may encounter abnormal results in routine laboratory tests while caring for patients with inborn errors of metabolism. This article provides a framework for understanding these abnormalities as: a) part of the pathophysiology of the exceptional disease, b) exceptional laboratory errors related to the exceptional disease, or c) routine laboratory errors to which any patient sample is susceptible.
Literatur
2.
Zurück zum Zitat Blau N, Duran M, Gibson KM, Vici CD, Blaskovics ME, editors. Physician’s guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. Heidelberg: Springer; 2014. Blau N, Duran M, Gibson KM, Vici CD, Blaskovics ME, editors. Physician’s guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases. Heidelberg: Springer; 2014.
3.
Zurück zum Zitat Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. Online Mendelian inheritance in man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res. 2005;33(suppl_1):D514–7.PubMed Hamosh A, Scott AF, Amberger JS, Bocchini CA, McKusick VA. Online Mendelian inheritance in man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res. 2005;33(suppl_1):D514–7.PubMed
4.
Zurück zum Zitat Lv H, Zhang GJ, Kang XX, Yuan H, Lv YW, Wang WW, et al. Factors interfering with the accuracy of five blood glucose meters used in Chinese hospitals. J Clin Lab Anal. 2013;27(5):354–66.CrossRef Lv H, Zhang GJ, Kang XX, Yuan H, Lv YW, Wang WW, et al. Factors interfering with the accuracy of five blood glucose meters used in Chinese hospitals. J Clin Lab Anal. 2013;27(5):354–66.CrossRef
5.
Zurück zum Zitat Mathew V, Ramakrishnan A, Srinivasan R, Sushma K, Bantwal G, Ayyar V. Erroneous glucose recordings while using mutant variant of quinoprotein glucose dehydrogenase glucometer in a child with galactosemia. Indian J Endocrinol Metab. 2013;17(Suppl 1):S289–91.CrossRef Mathew V, Ramakrishnan A, Srinivasan R, Sushma K, Bantwal G, Ayyar V. Erroneous glucose recordings while using mutant variant of quinoprotein glucose dehydrogenase glucometer in a child with galactosemia. Indian J Endocrinol Metab. 2013;17(Suppl 1):S289–91.CrossRef
6.
Zurück zum Zitat Warner JV, Wu JY, Buckingham N, McLeod DS, Mottram B, Carter AC. Can one point-of-care glucose meter be used for all pediatric and adult hospital patients? Evaluation of three meters, including recently modified test strips. Diabetes Technol Ther. 2011;13(1):55–62.CrossRef Warner JV, Wu JY, Buckingham N, McLeod DS, Mottram B, Carter AC. Can one point-of-care glucose meter be used for all pediatric and adult hospital patients? Evaluation of three meters, including recently modified test strips. Diabetes Technol Ther. 2011;13(1):55–62.CrossRef
7.
Zurück zum Zitat Radiometer ABL800 FLEX reference manual. 201206. Code number: 989–963, Version 6.10. Edition J. 2018. Radiometer ABL800 FLEX reference manual. 201206. Code number: 989–963, Version 6.10. Edition J. 2018.
8.
Zurück zum Zitat Ozbek MN, Ocal M, Tanriverdi S, Baysal B, Deniz A, Oncel K, et al. Capillary bedside blood glucose measurement in neonates: Missing a diagnosis of galactosemia. J Clin Res Pediatr Endocrinol. 2015;7(1):83–5.CrossRef Ozbek MN, Ocal M, Tanriverdi S, Baysal B, Deniz A, Oncel K, et al. Capillary bedside blood glucose measurement in neonates: Missing a diagnosis of galactosemia. J Clin Res Pediatr Endocrinol. 2015;7(1):83–5.CrossRef
9.
Zurück zum Zitat Bayarchimeg M, Ismail D, Lam A, Burk D, Kirk J, Hogler W, et al. Galactokinase deficiency in a patient with congenital hyperinsulinism. JIMD Rep. 2012;5:7–11.CrossRef Bayarchimeg M, Ismail D, Lam A, Burk D, Kirk J, Hogler W, et al. Galactokinase deficiency in a patient with congenital hyperinsulinism. JIMD Rep. 2012;5:7–11.CrossRef
10.
Zurück zum Zitat Tintu A, Rouwet E, Russcher H. Interference of ethylene glycol with (L)-lactate measurement is assay-dependent. Ann Clin Biochem. 2013;50(Pt 1):70–2.CrossRef Tintu A, Rouwet E, Russcher H. Interference of ethylene glycol with (L)-lactate measurement is assay-dependent. Ann Clin Biochem. 2013;50(Pt 1):70–2.CrossRef
11.
Zurück zum Zitat Brindley PG, Butler MS, Cembrowski G, Brindley DN. Falsely elevated point-of-care lactate measurement after ingestion of ethylene glycol. CMAJ. 2007;176(8):1097–9.CrossRef Brindley PG, Butler MS, Cembrowski G, Brindley DN. Falsely elevated point-of-care lactate measurement after ingestion of ethylene glycol. CMAJ. 2007;176(8):1097–9.CrossRef
12.
Zurück zum Zitat Backes JM, Dayspring T, Mieras T, Moriarty PM. Pseudohypertriglyceridemia: Two cases of probable glycerol kinase deficiency. J Clin Lipidol. 2012;6(5):469–73.CrossRef Backes JM, Dayspring T, Mieras T, Moriarty PM. Pseudohypertriglyceridemia: Two cases of probable glycerol kinase deficiency. J Clin Lipidol. 2012;6(5):469–73.CrossRef
13.
Zurück zum Zitat Rahalkar AR, Hegele RA. Monogenic pediatric dyslipidemias: Classification, genetics and clinical spectrum. Mol Genet Metab. 2008;93(3):282–94.CrossRef Rahalkar AR, Hegele RA. Monogenic pediatric dyslipidemias: Classification, genetics and clinical spectrum. Mol Genet Metab. 2008;93(3):282–94.CrossRef
14.
Zurück zum Zitat Piketty ML, Polak M, Flechtner I, Gonzales-Briceno L, Souberbielle JC. False biochemical diagnosis of hyperthyroidism in streptavidin-biotin-based immunoassays: The problem of biotin intake and related interferences. Clin Chem Lab Med. 2017;55(6):780–8.CrossRef Piketty ML, Polak M, Flechtner I, Gonzales-Briceno L, Souberbielle JC. False biochemical diagnosis of hyperthyroidism in streptavidin-biotin-based immunoassays: The problem of biotin intake and related interferences. Clin Chem Lab Med. 2017;55(6):780–8.CrossRef
15.
Zurück zum Zitat Elston MS, Sehgal S, Du Toit S, Yarndley T, Conaglen JV. Factitious Graves’ disease due to biotin immunoassay interference-A case and review of the literature. J Clin Endocrinol Metab. 2016;101(9):3251–5.CrossRef Elston MS, Sehgal S, Du Toit S, Yarndley T, Conaglen JV. Factitious Graves’ disease due to biotin immunoassay interference-A case and review of the literature. J Clin Endocrinol Metab. 2016;101(9):3251–5.CrossRef
16.
Zurück zum Zitat Li D, Radulescu A, Shrestha RT, Root M, Karger AB, Killeen AA, et al. Association of biotin ingestion with performance of hormone and nonhormone assays in healthy adults. JAMA. 2017;318(12):1150–60.CrossRef Li D, Radulescu A, Shrestha RT, Root M, Karger AB, Killeen AA, et al. Association of biotin ingestion with performance of hormone and nonhormone assays in healthy adults. JAMA. 2017;318(12):1150–60.CrossRef
17.
Zurück zum Zitat Samarasinghe S, Meah F, Singh V, Basit A, Emanuele N, Emanuele MA, et al. Biotin interference with routine clinical immunoassays: Understand the causes and mitigate the risks. Endocr Pract. 2017;23(8):989–98.CrossRef Samarasinghe S, Meah F, Singh V, Basit A, Emanuele N, Emanuele MA, et al. Biotin interference with routine clinical immunoassays: Understand the causes and mitigate the risks. Endocr Pract. 2017;23(8):989–98.CrossRef
19.
Zurück zum Zitat Willeman T, Casez O, Faure P, Gauchez AS. Evaluation of biotin interference on immunoassays: New data for troponin I, digoxin, NT-Pro-BNP, and progesterone. Clin Chem Lab Med. 2017;55(10):e226–9.CrossRef Willeman T, Casez O, Faure P, Gauchez AS. Evaluation of biotin interference on immunoassays: New data for troponin I, digoxin, NT-Pro-BNP, and progesterone. Clin Chem Lab Med. 2017;55(10):e226–9.CrossRef
20.
Zurück zum Zitat Rulander NJ, Cardamone D, Senior M, Snyder PJ, Master SR. Interference from anti-streptavidin antibody. Arch Pathol Lab Med. 2013;137(8):1141–6.CrossRef Rulander NJ, Cardamone D, Senior M, Snyder PJ, Master SR. Interference from anti-streptavidin antibody. Arch Pathol Lab Med. 2013;137(8):1141–6.CrossRef
21.
Zurück zum Zitat Stibler H, Holzbach U, Kristiansson B. Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I. Scand J Clin Lab Invest. 1998;58(1):55–61.CrossRef Stibler H, Holzbach U, Kristiansson B. Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I. Scand J Clin Lab Invest. 1998;58(1):55–61.CrossRef
22.
Zurück zum Zitat Walker V. Severe hyperammonaemia in adults not explained by liver disease. Ann Clin Biochem. 2012;49(Pt 3):214–28.CrossRef Walker V. Severe hyperammonaemia in adults not explained by liver disease. Ann Clin Biochem. 2012;49(Pt 3):214–28.CrossRef
23.
Zurück zum Zitat Houten SM, Violante S, Ventura FV, Wanders RJ. The biochemistry and physiology of mitochondrial fatty acid beta-oxidation and its genetic disorders. Annu Rev Physiol. 2016;78:23–44.CrossRef Houten SM, Violante S, Ventura FV, Wanders RJ. The biochemistry and physiology of mitochondrial fatty acid beta-oxidation and its genetic disorders. Annu Rev Physiol. 2016;78:23–44.CrossRef
24.
Zurück zum Zitat Sass JO. Inborn errors of ketogenesis and ketone body utilization. J Inherit Metab Dis. 2012;35(1):23–8.CrossRef Sass JO. Inborn errors of ketogenesis and ketone body utilization. J Inherit Metab Dis. 2012;35(1):23–8.CrossRef
25.
Zurück zum Zitat Rahman SA, Nessa A, Hussain K. Molecular mechanisms of congenital hyperinsulinism. J Mol Endocrinol. 2015;54(2):R119–29.CrossRef Rahman SA, Nessa A, Hussain K. Molecular mechanisms of congenital hyperinsulinism. J Mol Endocrinol. 2015;54(2):R119–29.CrossRef
26.
Zurück zum Zitat Guven A, Cebeci N, Dursun A, Aktekin E, Baumgartner M, Fowler B. Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant. Pediatr Diabetes. 2012;13(6):e22–5.CrossRef Guven A, Cebeci N, Dursun A, Aktekin E, Baumgartner M, Fowler B. Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant. Pediatr Diabetes. 2012;13(6):e22–5.CrossRef
27.
Zurück zum Zitat Hou JW. Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis. Chang Gung Med J. 2004;27(2):129–33.PubMed Hou JW. Biotin responsive multiple carboxylase deficiency presenting as diabetic ketoacidosis. Chang Gung Med J. 2004;27(2):129–33.PubMed
Metadaten
Titel
Approach to the interpretation of unexpected laboratory results arising in the care of patients with inborn errors of metabolism (IEM)
verfasst von
Andre Mattman
Murray Potter
Publikationsdatum
21.07.2018
Verlag
Springer US
Erschienen in
Reviews in Endocrine and Metabolic Disorders / Ausgabe 1/2018
Print ISSN: 1389-9155
Elektronische ISSN: 1573-2606
DOI
https://doi.org/10.1007/s11154-018-9453-4

Weitere Artikel der Ausgabe 1/2018

Reviews in Endocrine and Metabolic Disorders 1/2018 Zur Ausgabe

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.