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Markovitz R, Owen N, Satter LF, et al. Expansion of the clinical phenotype of GALE deficiency. Am J Med Genet A. 2021;185(10):3118-3121doi: 10.1002/ajmg.a.62384.
Markovitz, R., Owen, N., Satter, L. F., Kirk, S., Mahoney, D. H., Bertuch, A. A., & Scaglia, F. (2021). Expansion of the clinical phenotype of GALE deficiency. American journal of medical genetics. Part A, 185(10), 3118-3121. https://doi.org/10.1002/ajmg.a.62384
Markovitz, Rebecca, et al. "Expansion of the clinical phenotype of GALE deficiency." American journal of medical genetics. Part A vol. 185,10 (2021): 3118-3121. doi: https://doi.org/10.1002/ajmg.a.62384
Markovitz R, Owen N, Satter LF, Kirk S, Mahoney DH, Bertuch AA, Scaglia F. Expansion of the clinical phenotype of GALE deficiency. Am J Med Genet A. 2021 Oct;185(10):3118-3121. doi: 10.1002/ajmg.a.62384. Epub 2021 Jun 22. PMID: 34159722.
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Am J Med Genet A. 2021 Oct;185(10):3118-3121. doi: 10.1002/ajmg.a.62384. Epub 2021 Jun 22.

Expansion of the clinical phenotype of GALE deficiency.

American journal of medical genetics. Part A

Rebecca Markovitz, Nichole Owen, Lisa Forbes Satter, Susan Kirk, Donald H Mahoney, Alison A Bertuch, Fernando Scaglia

Affiliations

  1. Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
  2. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  3. Baylor Genetics, Houston, Texas, USA.
  4. Department of Pediatrics, Section of Immunology, Allergy, and Retrovirology, Baylor College of Medicine, Houston, Texas, USA.
  5. William T. Shearer Texas Children's Hospital Center for Human Immunobiology, Texas Children's Hospital, Houston, Texas, USA.
  6. Texas Children's Hospital, Houston, Texas, USA.
  7. Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine, Houston, Texas, USA.
  8. Texas Children's Hospital, Cancer and Hematology Centers, Houston, Texas, USA.
  9. Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong Kong SAR.

PMID: 34159722 DOI: 10.1002/ajmg.a.62384

Abstract

Congenital disorders of glycosylation are a group of rare monogenic inborn errors of metabolism caused by defective glycoprotein and glycolipid glycan synthesis and attachment. Here, we present a patient with galactose epimerase deficiency, also known as GALE deficiency, accompanied by pancytopenia and immune dysregulation. She was first identified by an abnormal newborn screen for galactosemia with subsequent genetic evaluation due to pancytopenia and immune dysregulation. The evaluation ultimately revealed that her known diagnosis of GALE deficiency was the cause of her hematologic and immune abnormalities. These findings further expand the clinical spectrum of disease of congenital disorders of glycosylation.

© 2021 Wiley Periodicals LLC.

Keywords: B-cell deficiency; congenital disorders of glycosylation; dysmegakaryopoiesis; glycosylation; immune dysfunction; thrombocytopenia

References

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