ALG1-CDG: A Patient with a Mild Phenotype and Literature Review


Oncul U., Kose E., EMİNOĞLU F. T.

MOLECULAR SYNDROMOLOGY, vol.13, no.1, pp.69-74, 2022 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 13 Issue: 1
  • Publication Date: 2022
  • Doi Number: 10.1159/000517797
  • Journal Name: MOLECULAR SYNDROMOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
  • Page Numbers: pp.69-74
  • Keywords: Congenital disorders of glycosylation, ALG1-CDG, ALG1 gene, CDG, Mild phenotype, CAUSES CONGENITAL-DISORDER, DEFICIENCY, IK
  • Dokuz Eylül University Affiliated: No

Abstract

ALG1-congenital disorder of glycosylation (ALG1-CDG) is an autosomal recessive multisystem disease. We here present a patient with a mild phenotype of ALG1-CDG. A 15-month-old female was referred with hypotonia, failure to thrive, and developmental delay. At 8 months of age, failure to thrive, feeding difficulties and developmental delay became apparent, and an epileptic seizure was observed at 11 months of age. Progressive deterioration and swallowing difficulty were observed. A brain MRI revealed a widening of the cerebrospinal fluid spaces and ventricular system, and decreased protein C, protein S and antithrombin III levels were identified. The isoelectric focusing showed a type 1 pattern. A homozygous c.1076C>T (p.Ser359Leu) variant was found in the ALG1 gene. CDG should be taken into consideration in patients presenting with unexplained multisystem involvement.