ALG1-CDG
{{Infobox medical condition (new)
| name = ALG1-CDG
| synonyms = CDG-IK
| field = Medical genetics
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| onset = birth
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| causes = biallelic pathogenic variants in ALG1
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| treatment = none
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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.{{cite web|url=https://www.omim.org/entry/608540|title=# 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K | publisher=Johns Hopkins University | accessdate = 2019-05-01}} Clinically, individuals with ALG1-CDG have developmental delay, hypotonia, seizures and microcephaly.{{cite web|title=ALG1-CDG (CDG-Ik) | url=https://rarediseases.info.nih.gov/diseases/9838/alg1-cdg-cdg-ik |accessdate = 2019-05-02 |publisher=National Institutes of Health}} Fewer than 60 cases of ALG1-CDG have been confirmed in published literature.{{cite web|title=Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |url = https://www.ncbi.nlm.nih.gov/books/NBK1332/ | accessdate = 2019-05-02 |publisher = National Institutes of Health}} ALG1-CDG can be suspected based on clinical findings, and abnormal serum transferrin glycosylation test results. 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.{{cite journal|last1=Jaeken|first1=Jaak|last2=Lefeber|first2=Dirk|last3=Matthijs|first3=Gert|title=Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation|journal=European Journal of Human Genetics|volume=23|issue=10|year=2015|pages=1431–1431|issn=1018-4813|doi=10.1038/ejhg.2015.9|pmc=4592101}} There are no specific treatments for ALG1-CDG, and most care consists of managing symptoms.