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Signs and Symptoms
The symptoms and severity of CDG vary from child to child. Some of the symptoms become more prominent at different ages. Most types of CDG are associated with minor differences in facial and body features, neurological problems, slow growth, clotting problems, liver and/or intestinal problems.
Some of the children have significant medical problems during infancy. Physicians should suspect CDG in children who present with the following signs and symptoms:
- hypotonia (low muscle tone)
- failure to thrive (slow growth)
- developmental delay
- hepatopathy (liver disease)
- coagulopathy (bleeding tendancies)
- esotropia (crossed eyes)
- cerebellar hypoplasia (changes in the brain that can be seen on developmental delay)
At a later age, adolescence or adulthood, affected individuals may have these additional clinical features:
- ataxia (poor balance)
- dysarthria (slurred speech)
- absent puberty in females
- retinitis pigmentosa (pigment in the retina of the eye)
- progressive scoliosis (curvature of the spine)
- joint contractures
Testing for CDG
Individuals who exhibit signs and symptoms of CDG should be referred for diagnostic testing to confirm they have this condition. Most CDG patients can be diagnosed by a simple blood test to analyze the glycosylation status of transferrin (Tf). Abnormal Tf is detected by isoelectric focusing (IEF), or by electrospray ionization-mass spectrometry (ESI-MS). Once CDG is diagnosed, further testing is required to determine the type of CDG.
Diagnosis of CDG Physician Information:
Test Name: Carbohydrate Deficient Transferrin Test
Method: ESI-MS method superior to IEF, CE (Capillary Electrophoresis), or HPLC (High Performance Liquid Chromatography)
Laboratory: Mayo Medical Laboratories Test (82414); CPT Code 82373
Requirments: Requires: 0.1 ml of serum
Detection: Will detect all known CDG-I types, many CDG-x. Will not detect: CDG-IIb, CDG IIc, CDG-IIf. Test may need to be rerun if done less than 2 weeks of age.
Mayo Medical Laboratories
Request: Carbohydrate Deficient Transferrin, serum. Test code 82414.