CDG syndrome type 4

CDG syndrome type 4: Introduction

CDG syndrome type 4: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 4 is caused by a genetic defect which involves the gene for a particular enzyme (dolichyl-P-mannose:Man-5-GlcNAc-2-PP-dolichyl-mannosyltransferase). More detailed information about the symptoms, causes, and treatments of CDG syndrome type 4 is available below.

Symptoms of CDG syndrome type 4

• Small head
• Severe epilepsy
• Severely impaired psychomotor development
• Vision problems
• Skeletal abnormalities
• more symptoms...»

See full list of 6 symptoms of CDG syndrome type 4

Causes of CDG syndrome type 4

Read more about causes of CDG syndrome type 4.

CDG syndrome type 4: Broader Related Topics

• Genetic conditions
• Metabolic conditions
• Congenital conditions - metabolic disorders
• more types...»

Types of CDG syndrome type 4

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