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GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction

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Article Hematology

Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis

Ana Marin-Quilez et al.

Summary: In this study, 4 variants affecting GALE were identified in 3 patients with severe thrombocytopenia. These patients exhibited giant and/or grey platelets, impaired platelet aggregation, and reduced secretion of alpha and dense granules. The study also revealed the critical role of GALE in the glycosylation and externalization of key proteins involved in platelet production and function, such as GPIb alpha-IX-V and mature beta 1 integrin.
Article Genetics & Heredity

Expansion of the clinical phenotype of GALE deficiency

Rebecca Markovitz et al.

Summary: Congenital disorders of glycosylation are rare monogenic inborn errors of metabolism caused by defective glycoprotein and glycolipid glycan synthesis and attachment. The patient presented with GALE deficiency, leading to pancytopenia and immune dysregulation, expanding the clinical spectrum of the disease.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2021)

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Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE)

Aaron Seo et al.

HUMAN MOLECULAR GENETICS (2019)

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Hereditary galactosemia

Didem Demirbas et al.

METABOLISM-CLINICAL AND EXPERIMENTAL (2018)

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In vivo and in vitro function of human UDP-galactose 4′-epimerase variants

Thomas J. McCorvie et al.

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Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia

J. S. Chhay et al.

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Article Genetics & Heredity

Epimerase-deficiency galactosemia is not a binary condition

KK Openo et al.

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