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The severity of the disorder can vary within the same family, with symptoms ranging from so mild as to go unnoticed, to severe heart and/or liver disease that requires transplantation. [6] It is uncommon, but Alagille syndrome can be a life-threatening disease with a mortality rate of 10%. [ 7 ]
About half of people with adult polyglucosan body disease experience dementia. [1] Most people with the condition first complain of bladder issues. [2] People with adult polyglucosan body disease typically first experience signs and symptoms related to the condition between ages 30 and 60. [1]
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 ...
The classic presentation is vomiting and failure to gain weight in a newborn with chalky bilateral adrenal calcifications on imaging, with life expectancy rarely exceeding a year. [2] Very low levels of the LAL enzyme lead to LAL deficiency. LAL deficiency typically affects infants in the first year of life.
glucosyltransferase I deficiency causes ALG6-CDG (CDG-Ic) [22] glucosyltransferase II deficiency causes ALG8-CDG (CDG-Ih). [23] Glc3Man9GlcNAc2-PP-Dol A protein with hitherto unknown activity, MPDU-1, is required for the efficient presentation of Dol-P-Man and Dol-P-Glc. Its deficiency causes MPDU1-CDG (CDG-If). [24]
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Less severe symptoms include: enlargement of the spleen and liver; diarrhea; People with aspartylglucosaminuria may have lower than average height, because they tend to go through puberty earlier. Epilepsy may develop in adulthood. Finnish studies have shown that life expectancy is shorter than average. [4]
Juvenile/adult subtype symptoms include impaired balance or coordination, dark red spots on the skin or angiokeratomas, vision loss, seizures, and muscle jerks or myoclonus. The symptoms of this subtype tend to be less severe than the first two subtypes, and typically start in adolescence, with the average age being 16 years of age.