Overview
Glycerol kinase deficiency (GKD), adult form, is a rare inherited metabolic condition caused by changes in the GK gene, which provides instructions for making an enzyme called glycerol kinase. This enzyme plays an important role in how the body processes fats and produces energy. In the adult form, the condition is usually mild or even discovered by accident. Many people with this form have no obvious symptoms and are identified only when routine blood tests show unusually high levels of triglycerides (a type of fat in the blood) or when a substance called glycerol is found in the urine (glyceroluria). The elevated glycerol in the blood can sometimes be mistakenly measured as elevated triglycerides on standard lab tests, which is called pseudohypertriglyceridemia. Unlike the more severe infantile and juvenile forms of glycerol kinase deficiency, the adult form typically does not cause serious health problems such as metabolic crises, developmental delays, or adrenal insufficiency. Most adults with this condition live normal, healthy lives and may never need treatment. However, it is important to get an accurate diagnosis so that doctors do not prescribe unnecessary medications for what appears to be high triglycerides. In some cases, monitoring by a metabolic specialist may be recommended to ensure no complications develop over time. There is currently no specific cure or targeted treatment for this condition, and management focuses on monitoring and avoiding unnecessary interventions.
Key symptoms:
No symptoms in many cases (discovered by accident)Falsely elevated triglyceride levels on blood tests (pseudohypertriglyceridemia)Glycerol found in the urine (glyceroluria)Elevated glycerol levels in the bloodOccasionally mild fatigue
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Glycerol kinase deficiency, adult form.
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Specialists
View all specialists →No specialists are currently listed for Glycerol kinase deficiency, adult form.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.Is my elevated triglyceride reading actually due to glycerol rather than true triglycerides?,Do I need any treatment, or is monitoring sufficient?,Should my family members be tested for glycerol kinase deficiency?,Are there any long-term health risks I should watch for?,Should I stop any lipid-lowering medications I was previously prescribed?,How often should I have follow-up appointments or lab tests?,Would genetic counseling be helpful for my family?
Common questions about Glycerol kinase deficiency, adult form
What is Glycerol kinase deficiency, adult form?
Glycerol kinase deficiency (GKD), adult form, is a rare inherited metabolic condition caused by changes in the GK gene, which provides instructions for making an enzyme called glycerol kinase. This enzyme plays an important role in how the body processes fats and produces energy. In the adult form, the condition is usually mild or even discovered by accident. Many people with this form have no obvious symptoms and are identified only when routine blood tests show unusually high levels of triglycerides (a type of fat in the blood) or when a substance called glycerol is found in the urine (glyce
How is Glycerol kinase deficiency, adult form inherited?
Glycerol kinase deficiency, adult form follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Glycerol kinase deficiency, adult form typically begin?
Typical onset of Glycerol kinase deficiency, adult form is adult. Age of onset can vary across affected individuals.