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All Diseases > SSR4-Congenital Disorder of Glycosylation
SSR4-Congenital Disorder of Glycosylation (SSR4-CDG)
Alternative Names: SSR4-deficiency; Deficiency of Signal Sequence Receptor Protein 4; Congenital Disorder of Glycosylation Iy (CDG1Y)
Disease Category: Congenital Disorders of Glycosylation
A rare, X-linked recessive, multisystemic, inherited condition, caused by an abnormal transport protein disrupting N-linked glycosylation. Symptoms manifest in infancy, including global developmental delay, intellectual disability, seizures, hypotonia (low muscle tone), failure to thrive, facial dysmorphism (abnormal difference in structure), connective tissue symptoms, and skeletal, gastrointestinal, and eye abnormalities.
Research groups studying this disease
Congenital Disorders of Glycosylation
The investigators are conducting a natural history study of patients with congenital disorders of glycosylation (CDG). The study will look into the progression of the disease amongst the participants and also look at the clinical symptoms and how they vary amongst different diseased population groups. The participants will be asked to fill out questionnaires either on their own or with a provider that will grade the severity of disease and document symptoms and diet. Participants will have an opportunity to submit blood, urine, and stool samples that will be tested for biomarkers for CDG. Participants will also complete dietary food records, physical exams, CDG scores, and the PROMIS questionnaires to assess disease progression and severity.
A patient-led infrastructure for research, awareness, and education for Congenital Disorders of Glycosylation.
Promotes awareness of congenital disorders of glycosylation (CDG) and NGLY1-deficiency, provides resources, and funds scientific research.
Connects patients and families affected by congenital disorders of glycosylation (CDG) to clinicians and researchers in Canada and globally.