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208211 Ensembl ENSG00000033011 ENSMUSG00000039427 UniProt Q9BT22 Q921Q3 RefSeq (mRNA) NM_019109 NM_001330504 NM_145362 RefSeq (protein) NP_001317433 NP_061982 NP_663337 Location (UCSC) Chr 16: 5.03 – 5.09 Mb Chr 16: 5.05 – 5.06 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Chitobiosyldiphosphodolichol beta-mannosyltransferase is an enzyme that is encoded by ALG1 whose structure ...
Deficiency in GlcNAc-1-P transferase causes DPAGT1-CDG (CDG-Ij) [14] Loss of the first mannosyltransferase causes ALG1-CDG (CDG-Ik) [15] Loss of the second mannosyltransferase (adds Man II and III) causes ALG2-CDG (CDG-Ii). [16] Loss of the third mannosyltransferase (adds Man IV and V) causes ALG11-CDG (CDG-Ip) [17]
People with this deficiency lack immunoglobulin A (IgA), a type of antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. It is defined as an undetectable serum IgA level in the presence of normal serum levels of IgG and IgM, in persons older than 4 years. It is the most common of the ...
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]
Cholestasis can be excluded by normal levels of bile acids in plasma, the absence of lactate dehydrogenase, low levels of conjugated bilirubin, and ultrasound scan of the bile ducts. Vitamin B12 deficiency - elevated bilirubin levels (and MCV counts above 90–92) can be associated with a vitamin B12 deficiency.
An analysis of data from more than 8,000 adults in the U.S. revealed that 14% had low iron blood levels, a condition known as absolute iron deficiency, while 15% had the right iron levels but ...
Secretory IgA levels fluctuate diurnally, with the highest levels found in the small intestine and feces around ZT6, the middle of the light period. [18] The regulation of IgA secretion is related to the microbiota, and IgA is known to control specific members of oscillating microbes through direct interactions. [ 18 ]
A large proportion of adults in the United States – nearly 1 in 3 – may have one of two forms of iron deficiency, even if they don’t have a health condition for which they would be screened ...