Expansion of the clinical phenotype of GALE deficiency.
Am J Med Genet A
; 185(10): 3118-3121, 2021 10.
Article
em En
| MEDLINE
| ID: mdl-34159722
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
UDPglucose 4-Epimerase
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Defeitos Congênitos da Glicosilação
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Galactosemias
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
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Female
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Humans
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Estados Unidos