What Is Congenital Disorder Of Glycosylation Type 1a
Individuals with PMM2-CDG typically. Almost all types of congenital disorders of glycosylation CDG present in infancy.
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PMM2-congenital disorder of glycosylation PMM2-CDG also known as congenital disorder of glycosylation type Ia is an inherited condition that affects many parts of the bodyThe type and severity of problems associated with PMM2-CDG vary widely among affected individuals sometimes even among members of the same family.
What is congenital disorder of glycosylation type 1a. Because of the important biologic functions of the oligosaccharides in both glycoproteins and glycolipids incorrect synthesis of these compounds results in broad multisystem clinical manifestations that may include one or more of the following. PMM2-CDG is a rare genetic disorder that affects the nervous system and other parts of the body. Congenital Disorder of Glycosylation Type Iv NGLY1 Congenital Disorders of Glycosylation - CDG Panel 36 gene panel by NGS.
It is characterized by developmental delay muscle weakness and failure to gain weight. A person must have two variants in the PMM2 gene in order to have this condition. Charcot-Marie-Tooth Neuropathy Type 1A FISH Analysis - Chromosome X and Y Centromere Analysis FISH Analysis - Custom Familial FISH Studies.
Congenital Disorder of Glycosylation Type 1a PMM2-CDG and our test.
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