ALG1-CDG

ALG1-CDG is an autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in ALG1. The first cases of ALG1-CDG were described in 2004, and the causative gene was identified at the same time. This disorder was originally designated CDG-IK, under earlier nomenclature for congenital disorders of glycosylation.^[1] Clinically, individuals with ALG1-CDG have developmental delay, hypotonia, seizures and microcephaly.^[2] Fewer than 60 cases of ALG1-CDG have been confirmed in published literature.^[3] ALG1-CDG can be suspected based on clinical findings, and abnormal serum transferrin glycosylation test results.^[3] Confirmation of the diagnosis can be performed based on sequence analysis of ALG1. The analysis of ALG1 is complicated by the presence of a pseudogene.^[4] There are no specific treatments for ALG1-CDG, and most care consists of managing symptoms.^[1][3]

ALG1-CDG
Other names	CDG-IK
Specialty	Medical genetics
Usual onset	birth
Causes	biallelic pathogenic variants in ALG1
Treatment	none