Living with Congenital disorder of deglycosylation 1
A rare genetic condition (NGLY1 deficiency) with no tears, a movement disorder, liver disease and developmental delay.
Understanding Congenital disorder of deglycosylation 1
The enzyme helps the body remove proteins that are not working properly. Typical features are low tear production, a movement disorder (choreoathetosis) and liver disease. People may also have developmental delay, low muscle tone, nerve damage, small head size and brain wave (EEG) changes. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Little or no tears (alacrima)
- Writhing movements (choreoathetosis)
- Global developmental delay
- Seizures
- Chronic constipation
- Nerve damage affecting feeling and movement
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in NGLY1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
CDG CARE and Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: CDG CARE, Foundation for Ichthyosis and Related Skin Types
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with CDG CARE and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the NGLY1 gene. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: alacrimia-choreoathetosis-liver dysfunction syndrome; cdg1v; congenital disorder of glycosylation type iv; ngly1 deficiency; ngly1-cddg; ngly1-deficiency
Patient organizations
- CDG CARECongenital disorder of deglycosylation 1 · United States
- Grace Science FoundationCongenital disorder of deglycosylation 1 · United States
- Foundation for Ichthyosis and Related Skin TypesIchthyosis · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital disorder of deglycosylation 1.
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