Living with Isolated glycerol kinase deficiency
A very rare X-linked metabolic condition with high glycerol levels, ranging from serious childhood episodes to no symptoms in adults.
Understanding Isolated glycerol kinase deficiency
Blood and urine glycerol levels are high. Effects depend on age at onset. There are infant, juvenile, and adult forms, ranging from a serious metabolic crisis in childhood to no symptoms in adults. It can start at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Developmental delay
- Intellectual disability
- Low muscle tone
- Seizures
- Short stature
- Scoliosis (curved spine)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
GARD says changes in genes cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: glycerol kinase deficiency - isolated; isolated inborn glycerol kinase deficiency; nonsyndromic glycerol kinase deficiency; nonsyndromic inborn glycerol 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 Isolated glycerol kinase deficiency.
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