WebCongenital disorders of glycosylation (CDG) are a group of more than 130 monogenic diseases that cause abnormal glycosylation[34, 35]. While their clinical manifestations and severity are variable, neurodevelopmental abnormalities, intellectual disability (ID), failure to thrive and liver disease are commonly observed [ 36 – 38 ]. WebCongenital myasthenic syndrome-14 is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be ...

ALG1 gene: MedlinePlus Genetics

WebALG1 -congenital disorder of glycosylation ( ALG1 -CDG, also known as congenital disorder of glycosylation type Ik) is an inherited disorder with varying signs and … WebMPI-CDG is a form of congenital disorders of N-linked glycosylation, characterized by cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, gastrointestinal complications (protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin), and thrombotic events (protein C and S deficiency, low anti … synodontis brichardi catfish

Congenital Disorders of Glycosylation from a Neurological

WebSLC35A2-congenital disorder of glycosylation (SLC35A2-CDG, formerly known as congenital disorder of glycosylation type IIm) is an inherited condition that causes … WebA congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which … WebCongenital Disorders of Glycosylation (CDG) are an expanding and complex group of rare genetic disorders caused by defects in the glycosylation of proteins and lipids. … synodontis congicus