Sani-cloth wipe mimics rare enzyme deficiency malonic aciduria on newborn screen

Pediatrics

Volumn 130, Issue 5, 2012, Pages

  Reindl, Bailey A ^a   Lynch, Douglas W ^a   Ramirez, Michael ^b   Valbracht, Marcia ^b   Davis Keppen, Laura ^c   Tams, Kimberlee C ^a   Groeneveld, Sarah ^c  

^a UNIVERSITY OF SOUTH DAKOTA   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c UNIVERSITY OF SOUTH DAKOTA   (United States)

Author keywords

False positive results; Malonic aciduria; Metabolic diseases disorders; Newborn screening

Indexed keywords

CARNITINE DERIVATIVE; MALONYL COENZYME A DECARBOXYLASE; MALONYLCARNITINE; QUATERNARY AMMONIUM DERIVATIVE; UNCLASSIFIED DRUG;

AMINO ACID BLOOD LEVEL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD SAMPLING; CLINICAL ARTICLE; CONTAMINATION; ENZYME DEFICIENCY; FALSE POSITIVE RESULT; HUMAN; HYGIENE PRODUCT; INBORN ERROR OF METABOLISM; MALONIC ACIDURIA; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; RARE DISEASE; SANITARY CLOTH WIPE; TANDEM MASS SPECTROMETRY;

EID: 84868628563     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2012-0569     Document Type: Article

References (15)

1. National Newborn Screening and Genetic Resource Center. Overview of National Newborn Screening - NNSGRC. Available at: http://genes-r-us.uthscsa. edu/resources/newborn/overview.htm. Accessed June 29, 2011
2. Newborn screening: toward a uniform screening panel and system. Genet Med. 2006;8(suppl 1):1S-252S
3. Recommended Uniform Screening Panel, Health Resource Services Administration, U.S. Department of Health and Human Services. Available at: www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/ recommendedpanel. Accessed March 5, 2012
4. Iowa Department of Public Health. (MA) Malonyl-CoA decarboxylase deficiency. IDPH. Available at: www.idph.state.ia.us/genetics/expanded-panel. asp. Updated 2011. Accessed April 20, 2011
5. US National Library of Medicine. Malonyl-CoA decarboxylase deficiency. Genetics home reference. Available at: www.ghr.nlm.nih.gov/condition/malonyl- coa-decarboxylase-deficiency. Updated 2011. Accessed April 20, 2011
6. Santer R, Fingerhut R, Lässker U, et al. Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase defi ciency. Clin Chem. 2003;49(4):660-662 (Pubitemid 36379535)
7. Salomons GS, Jakobs C, Pope LL, et al. Clinical, enzymatic and molecular characterization of nine new patients with malonylcoenzyme A decarboxylase deficiency. J Inherit Metab Dis. 2007;30(1):23-28 (Pubitemid 46140221)
8. Chace DH, Hillman SL, Millington DS, Kahler SG, Roe CR, Naylor EW. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem. 1995;41(1):62-68
9. Centers for Disease Control and Prevention. Newborn Screening Quality Assurance Program Web site. Available at: www.cdc.gov/labstandards/nsqap.html. Accessed December 10, 2011
10. Environmental Protection Agency. Of fice of Pesticide Programs. List E: EPA's Registered Antimicrobial Products Effective Against Mycobacterium tuberculosis, Human HIV-1 and Hepatitis B Virus. Available at: www.epa.gov/oppad001/list-e-mycobact-hiv-hepatitis.pdf. Accessed December 10, 2011
11. PDI FAQ. Sani-Cloth. Available at: www.pdipdi.com/healthcare/faq.aspx. Accessed December 10, 2011
12. Tarini BA, Christakis DA, Welch HG. State newborn screening in the tandem mass spectrometry era: more tests, more false-positive results. Pediatrics . 2006;118(2):448-456 (Pubitemid 46085397)
13. Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics. 2006;117(6):1915-1921 (Pubitemid 46071234)
14. Tahirovic H, Toromanovic A, Grbic S. Higher frequency of screening TSH above 5 mIU/l in infants likely exposed to higher doses of iodine-containing skin antiseptic: implications for assessment of iodine sufficiency. J Pediatr Endocrinol Metab. 2009;22(4):335-338
15. Chace DH, De Jesús VR, Lim TH, Hannon WH, Clark RH, Spitzer AR. Detection of TPN contamination of dried blood spots used in newborn and metabolic screening and its impact on quantitative measurement of amino acids. Clin Chim Acta. 2011;412(15-16):1385-1390