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Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.
M Mohamed1, M Guillard, S B Wortmann
1Institute for Genetic and Metabolic Diseases at the Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
Biochimica Et Biophysica Acta
|March 3, 2011
Summary
Congenital disorders of glycosylation type 2 present unique anomalies like hearing loss and cardiac issues. Clinicians should consider these disorders in patients with cardiac, skeletal, or metabolic abnormalities, even without intellectual disability.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Congenital disorders of glycosylation (CDG) often involve dysmorphic features, multisystem disease, and CNS involvement.
- Golgi-related glycosylation defects are a subset of CDG, with some recently discovered.
- Identifying discriminative features for CDG type 2 is crucial for diagnosis.
Purpose of the Study:
- To identify unique clinical and biochemical features of Golgi-related inborn errors of glycosylation (CDG type 2).
- To establish a diagnostic approach for genetically unsolved CDG type 2 patients.
- To highlight newly recognized symptoms associated with CDG type 2.
Main Methods:
- Assessed eleven children with suspected Golgi-related inborn errors of glycosylation (CDG type 2).
- Evaluated genetically unsolved patients with a type 2 transferrin isoelectric focusing pattern (1999-2009).
- Combined biochemical results, clinical symptoms, and targeted genetic/biochemical studies using a diagnostic flowchart.
Main Results:
- Identified a spectrum of CDG type 2 anomalies: sudden hearing loss, brain malformations, wrinkled skin, epilepsy, skeletal dysplasia, dilated cardiomyopathy, cardiac arrest, abnormal copper/iron metabolism, and endocrine issues.
- One patient with cortical malformations and skin abnormalities was diagnosed with ATP6V0A2 defect (known syndrome).
- Reported unique CDG type 2 anomalies including ATPase-related and unrelated cutis laxa and sensorineural hearing loss.
Conclusions:
- Congenital disorders of glycosylation type 2 encompass a broad range of unique clinical presentations.
- Sensorineural hearing loss is a newly recognized symptom of CDG.
- Clinicians should consider CDG in patients with cardiac rhythm disorders, spondylodysplasia, and copper/iron metabolism abnormalities, even without intellectual disability.
