Living with D-Glyceric aciduria
A rare inherited metabolic condition with very different effects, from mild speech delay to severe brain problems.
Understanding D-Glyceric aciduria
Effects vary widely. Some people have a severe brain illness, long-lasting acid buildup in the blood, delays, and seizures. Others have only mild speech delay and seemingly normal development.
Signs & symptoms
Symptoms vary a lot from person to person. GARD lists these among the most common:
- Delayed development overall
- Delayed speech and language
- Intellectual disability
- Seizures
- Small head size (microcephaly)
- Low muscle tone in infants
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 genetic specialists.
- 3Consider genetic testing
Changes in GLYCTK are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
Changes in the GLYCTK gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: d-glycerate kinase deficiency; d-glyceric acidemia; d-glycericacidemia; deficiency of glycerate kinase; glycerate kinase deficiency
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with D-Glyceric aciduria.
Explore research for D-Glyceric aciduria
Explore actively recruiting D-Glyceric aciduria studies with HealthSpark.
Find actively recruiting studies for D-Glyceric aciduria with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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