Literature summary for 2.4.1.265 extracted from

Vesela, K.; Honzik, T.; Hansikova, H.; Haeuptle, M.A.; Semberova, J.; Stranak, Z.; Hennet, T.; Zeman, J.
A new case of ALG8 deficiency (CDG Ih) (2009), J. Inherit. Metab. Dis., 32, 259�264.

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Protein Variants

Protein Variants	Comment	Organism
R364X	two ALG8 mutations in heterozygous form are detected in the patient. The first mutation (c.139A>C), is combined with a c.1090C>T mutation. The index mutation, which is translated into the missense mutation p.T47P, is inherited from the father. The c.1090C>T mutation resulting in a premature stop codon (p.R364X) is found in heterozygous form in the mother, whereas it is not found in 150 healthy controls. The prognosis of patients with ALG8 deficiency is unfavourable. The majority of affected children have early onset of the disease with heterogeneous symptoms including multiple organ dysfunction, coagulopathy and protein-losing enteropathy	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
ALG8	-	Homo sapiens
Dol-P-Glc:Glc1-Man9-GlcNAc2-P-P-Dol glucosyltransferase	-	Homo sapiens

General Information

General Information	Comment	Organism
malfunction	ALG8 deficiency (CDG Ih), leads to protein N-glycosylation defects caused by malfunction of Dol-P-Glc:Glc1-Man9-GlcNAc2-P-P-Dol glucosyltransferase resulting in inefficient addition of the second glucose residue onto lipid-linked oligosaccharides. The lipid-linked oligosaccharide profile of the patient shows the accumulation of incomplete precursor structures corresponding to GlcNAc2Man9 and GlcNAc2-Man9Glc1. Two ALG8 mutations in heterozygous form are detected in the patient. The first mutation (c.139A>C), is combined with a c.1090C>T mutation. The index mutation, which is translated into the missense mutation p.T47P, is inherited from the father. The c.1090C>T mutation resulting in a premature stop codon (p.R364X) is found in heterozygous form in the mother, whereas it is not found in 150 healthy controls. The prognosis of patients with ALG8 deficiency is unfavourable. The majority of affected children have early onset of the disease with heterogeneous symptoms including multiple organ dysfunction, coagulopathy and protein-losing enteropathy	Homo sapiens

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Release 2023.1 (January 2023)