Altassan, Ruqaiah published the artcileInternational consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management, COA of Formula: C6H12O6, the main research area is review phosphoglucomutase diagnosis protein glycosylation; d-galactose; PGM1-CDG; congenital disorder of glycosylation; management guidelines; phosphoglucomutase 1 deficiency.
Phosphoglucomutase 1 deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some patients present in adulthood with isolated muscle involvement. Some patients develop life-threatening cardiomyopathy. Unlike most other CDG, PGM1-CDG has an effective treatment option, -galactose, which has been shown to improve many of the patients’ symptoms. Therefore, early diagnosis and initiation of treatment for PGM1-CDG patients are crucial decisions. In this article, our group of international experts suggests diagnostic, follow-up, and management guidelines for PGM1-CDG. These guidelines are based on the best available evidence-based data and experts’ opinions aiming to provide a practical resource for health care providers to facilitate successful diagnosis and optimal management of PGM1-CDG patients.
Journal of Inherited Metabolic Disease published new progress about Cardiomyopathy. 59-23-4 belongs to class alcohols-buliding-blocks, name is (2R,3S,4S,5R)-2,3,4,5,6-Pentahydroxyhexanal, and the molecular formula is C6H12O6, COA of Formula: C6H12O6.
Referemce:
Alcohol – Wikipedia,
Alcohols – Chemistry LibreTexts