Medicine:ALG1-CDG
| ALG1-CDG | |
|---|---|
| Other names | CDG-IK |
| Specialty | Medical genetics |
| Usual onset | birth |
| Causes | biallelic pathogenic variants in ALG1 |
| Treatment | none |
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]
References
- ↑ 1.0 1.1 "# 608540 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik; CDG1K". Johns Hopkins University. https://www.omim.org/entry/608540. Retrieved 2019-05-01.
- ↑ "ALG1-CDG (CDG-Ik)". National Institutes of Health. https://rarediseases.info.nih.gov/diseases/9838/alg1-cdg-cdg-ik. Retrieved 2019-05-02.
- ↑ 3.0 3.1 3.2 "Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview". National Institutes of Health. https://www.ncbi.nlm.nih.gov/books/NBK1332/. Retrieved 2019-05-02.
- ↑ Jaeken, Jaak; Lefeber, Dirk; Matthijs, Gert (2015). "Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation". European Journal of Human Genetics 23 (10): 1431–1431. doi:10.1038/ejhg.2015.9. ISSN 1018-4813.
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