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All Diseases > NGLY1 Deficiency
NGLY1 Deficiency (NGLY1-CDDG)
Alternative Names: NGLY1 Congenital Disorder of Deglycosylation
Disease Category: Congenital Disorders of Glycosylation
A rare, inherited condition caused by an abnormal enzyme disrupting N-linked deglycosylation. Symptoms manifest during infancy, including hypotonia (low muscle tone), seizures, liver disease, eye problems, failure to thrive, hyperkinetic movements, motor and speech delays, peripheral neuropathy, apnea, hypohydrosis, hearing loss, hypermobile joints, and scoliosis.
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.
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.