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All Diseases > SRD5A3-Congenital Disorder of Glycosylation
SRD5A3-Congenital Disorder of Glycosylation (SRD5A3-CDG)
Alternative Names: Congenital Disorder of Glycosylation Type Iq (CDG1Q); SRD5A3 deficiency
Disease Category: Congenital Disorders of Glycosylation
A rare, multisystemic, inherited condition affecting mainly the neurological system, caused by an abnormal enzyme disrupting N-linked glycosylation. Symptoms manifest in infancy, including balance and coordination problems (ataxia), hypotonia (low muscle tone), facial dysmorphism (abnormal difference in body structure), kyphosis (outward curvature of the spine), joint hypermobility, and cardiac, eye, and dermatological problems.
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.