CDG syndrome type 1C
Overview
A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1C has a ?1,3-glucosyl-transferase enzyme defect.
Symptoms
* Psychomotor retardation * Hypotonia * Strabismus * Coagulopathy * Small head * Feeding difficulties * Ataxia * Finger abnormalities * Deep vein thrombosis * Pseudotumor cerebri * Endocrine disturbances * Hyperandrogenism * Virilization
Diagnosis
* Cold & Flu: Home Testing: * Home Fever Tests * Home Ear Infection Tests * Home Flu Tests