Ad
related to: normal alg1 deficiency conditions
Search results
Results from the WOW.Com Content Network
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 ...
This enzyme is responsible for the interconversion of mannose-6-phosphate and mannose-1-phosphate, and its deficiency leads to a shortage in GDP-mannose and dolichol (Dol)-mannose (Man), two donors required for the synthesis of the lipid-linked oligosaccharide precursor of N-linked glycosylation.
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]
Mitochondrial pyruvate carrier deficiency (MPYCD) is a metabolic disorder, in which the transport of pyruvate from the cytosol to the mitochondria is affected (gene SLC54A1/BRP44L/MPC1 [6]); the deficiency is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired ...
The three conditions are the following: The signs and symptoms of hypoglycemia are present (see section below on Signs and Symptoms) [2] [10] A low blood glucose measurement is present, typically less than 70 mg/dL (3.9 mmol/L) [2] The signs and symptoms of hypoglycemia resolve after blood glucose levels have returned to normal [2]
Vitamin D deficiency, especially in early life, is linked to an increased risk of autoimmune conditions, such as type 1 diabetes. Autoimmune diseases can be caused by a failure of T cells, a type ...
Conditions like obesity, diabetes, and kidney disease, which have become very common in the US, can cause functional iron deficiency,” Dr. Leo Buckley, lead author of the study and a clinical ...
Micrognathism is a condition where the jaw is undersized. It is also sometimes called mandibular hypoplasia. [2] It is common in infants, [3] [4] but is usually self-corrected during growth, due to the jaws' increasing in size.
Ad
related to: normal alg1 deficiency conditions