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Medical condition From Wikipedia, the free encyclopedia
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 |
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