False-positive newborn screen using the beutler spot assay for galactosemia in glucose-6-phosphate dehydrogenase deficiency

Grace Stuhrman, Stefanie J. Perez Juanazo, Kea Crivelly, Jennifer Smith, Hans Andersson, Eva Morava-Kozicz

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Citations (Scopus)

Abstract

Classical galactosemia is detected through newborn screening by measuring galactose-1-phosphate uridylyltransferase (GALT) in the USA primarily via the Beutler spot assay. We report on an 18-month-old patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency that was originally diagnosed with classical galactosemia. The patient presented with elevated liver function enzymes and bilirubinemia and was immediately treated with soy-based formula. Confirmatory tests revealed deficiency of the GALT enzyme, however, full-sequencing of GALT was normal, suggestive of a different ideology. The Beutler spot assay uses three other enzymatic steps in addition to GALT. A deficiency in either of these enzymes can result in suspected decreased GALT activity when using the Beutler assay. Congenital Disorders of Glycosylation screening for phosphoglucomutase-1 deficiency was negative. Quantitative analysis of G6PD enzyme in red blood cells showed a severe deficiency and a deletion in G6PD. Soy-formula, the standard treatment for galactosemia, has been reported to trigger hemolysis in G6PD deficient patients. G6PD and phosphoglucomutase-1 deficiencies should be considered when confirmatory tests are negative for pathogenic variants in GALT and galactose-1-phosphate level is normal.

Original languageEnglish (US)
Title of host publicationJIMD Reports
PublisherSpringer
Pages1-5
Number of pages5
DOIs
StatePublished - Jan 1 2017
Externally publishedYes

Publication series

NameJIMD Reports
Volume36
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312

Fingerprint

Galactosemias
Glucosephosphate Dehydrogenase Deficiency
Glucosephosphate Dehydrogenase
Assays
Newborn Infant
Phosphoglucomutase
Enzymes
Congenital Disorders of Glycosylation
Screening
Hyperbilirubinemia
Glycosylation
Hemolysis
Erythrocytes
Liver
Blood
Cells
Chemical analysis
galactose-1-phosphate
Glycogen Storage Disease XIV

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)

Cite this

Stuhrman, G., Perez Juanazo, S. J., Crivelly, K., Smith, J., Andersson, H., & Morava-Kozicz, E. (2017). False-positive newborn screen using the beutler spot assay for galactosemia in glucose-6-phosphate dehydrogenase deficiency. In JIMD Reports (pp. 1-5). (JIMD Reports; Vol. 36). Springer. https://doi.org/10.1007/8904_2016_34

False-positive newborn screen using the beutler spot assay for galactosemia in glucose-6-phosphate dehydrogenase deficiency. / Stuhrman, Grace; Perez Juanazo, Stefanie J.; Crivelly, Kea; Smith, Jennifer; Andersson, Hans; Morava-Kozicz, Eva.

JIMD Reports. Springer, 2017. p. 1-5 (JIMD Reports; Vol. 36).

Research output: Chapter in Book/Report/Conference proceedingChapter

Stuhrman, G, Perez Juanazo, SJ, Crivelly, K, Smith, J, Andersson, H & Morava-Kozicz, E 2017, False-positive newborn screen using the beutler spot assay for galactosemia in glucose-6-phosphate dehydrogenase deficiency. in JIMD Reports. JIMD Reports, vol. 36, Springer, pp. 1-5. https://doi.org/10.1007/8904_2016_34
Stuhrman G, Perez Juanazo SJ, Crivelly K, Smith J, Andersson H, Morava-Kozicz E. False-positive newborn screen using the beutler spot assay for galactosemia in glucose-6-phosphate dehydrogenase deficiency. In JIMD Reports. Springer. 2017. p. 1-5. (JIMD Reports). https://doi.org/10.1007/8904_2016_34
Stuhrman, Grace ; Perez Juanazo, Stefanie J. ; Crivelly, Kea ; Smith, Jennifer ; Andersson, Hans ; Morava-Kozicz, Eva. / False-positive newborn screen using the beutler spot assay for galactosemia in glucose-6-phosphate dehydrogenase deficiency. JIMD Reports. Springer, 2017. pp. 1-5 (JIMD Reports).
@inbook{15f54e284ffe41aebbf4c2b69499c0bc,
title = "False-positive newborn screen using the beutler spot assay for galactosemia in glucose-6-phosphate dehydrogenase deficiency",
abstract = "Classical galactosemia is detected through newborn screening by measuring galactose-1-phosphate uridylyltransferase (GALT) in the USA primarily via the Beutler spot assay. We report on an 18-month-old patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency that was originally diagnosed with classical galactosemia. The patient presented with elevated liver function enzymes and bilirubinemia and was immediately treated with soy-based formula. Confirmatory tests revealed deficiency of the GALT enzyme, however, full-sequencing of GALT was normal, suggestive of a different ideology. The Beutler spot assay uses three other enzymatic steps in addition to GALT. A deficiency in either of these enzymes can result in suspected decreased GALT activity when using the Beutler assay. Congenital Disorders of Glycosylation screening for phosphoglucomutase-1 deficiency was negative. Quantitative analysis of G6PD enzyme in red blood cells showed a severe deficiency and a deletion in G6PD. Soy-formula, the standard treatment for galactosemia, has been reported to trigger hemolysis in G6PD deficient patients. G6PD and phosphoglucomutase-1 deficiencies should be considered when confirmatory tests are negative for pathogenic variants in GALT and galactose-1-phosphate level is normal.",
author = "Grace Stuhrman and {Perez Juanazo}, {Stefanie J.} and Kea Crivelly and Jennifer Smith and Hans Andersson and Eva Morava-Kozicz",
year = "2017",
month = "1",
day = "1",
doi = "10.1007/8904_2016_34",
language = "English (US)",
series = "JIMD Reports",
publisher = "Springer",
pages = "1--5",
booktitle = "JIMD Reports",

}

TY - CHAP

T1 - False-positive newborn screen using the beutler spot assay for galactosemia in glucose-6-phosphate dehydrogenase deficiency

AU - Stuhrman, Grace

AU - Perez Juanazo, Stefanie J.

AU - Crivelly, Kea

AU - Smith, Jennifer

AU - Andersson, Hans

AU - Morava-Kozicz, Eva

PY - 2017/1/1

Y1 - 2017/1/1

N2 - Classical galactosemia is detected through newborn screening by measuring galactose-1-phosphate uridylyltransferase (GALT) in the USA primarily via the Beutler spot assay. We report on an 18-month-old patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency that was originally diagnosed with classical galactosemia. The patient presented with elevated liver function enzymes and bilirubinemia and was immediately treated with soy-based formula. Confirmatory tests revealed deficiency of the GALT enzyme, however, full-sequencing of GALT was normal, suggestive of a different ideology. The Beutler spot assay uses three other enzymatic steps in addition to GALT. A deficiency in either of these enzymes can result in suspected decreased GALT activity when using the Beutler assay. Congenital Disorders of Glycosylation screening for phosphoglucomutase-1 deficiency was negative. Quantitative analysis of G6PD enzyme in red blood cells showed a severe deficiency and a deletion in G6PD. Soy-formula, the standard treatment for galactosemia, has been reported to trigger hemolysis in G6PD deficient patients. G6PD and phosphoglucomutase-1 deficiencies should be considered when confirmatory tests are negative for pathogenic variants in GALT and galactose-1-phosphate level is normal.

AB - Classical galactosemia is detected through newborn screening by measuring galactose-1-phosphate uridylyltransferase (GALT) in the USA primarily via the Beutler spot assay. We report on an 18-month-old patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency that was originally diagnosed with classical galactosemia. The patient presented with elevated liver function enzymes and bilirubinemia and was immediately treated with soy-based formula. Confirmatory tests revealed deficiency of the GALT enzyme, however, full-sequencing of GALT was normal, suggestive of a different ideology. The Beutler spot assay uses three other enzymatic steps in addition to GALT. A deficiency in either of these enzymes can result in suspected decreased GALT activity when using the Beutler assay. Congenital Disorders of Glycosylation screening for phosphoglucomutase-1 deficiency was negative. Quantitative analysis of G6PD enzyme in red blood cells showed a severe deficiency and a deletion in G6PD. Soy-formula, the standard treatment for galactosemia, has been reported to trigger hemolysis in G6PD deficient patients. G6PD and phosphoglucomutase-1 deficiencies should be considered when confirmatory tests are negative for pathogenic variants in GALT and galactose-1-phosphate level is normal.

UR - http://www.scopus.com/inward/record.url?scp=85047493921&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85047493921&partnerID=8YFLogxK

U2 - 10.1007/8904_2016_34

DO - 10.1007/8904_2016_34

M3 - Chapter

T3 - JIMD Reports

SP - 1

EP - 5

BT - JIMD Reports

PB - Springer

ER -