Overview
Glycerol kinase deficiency (GKD), juvenile form, is a rare inherited metabolic condition that affects how the body processes glycerol, a simple fat molecule. The disease is caused by changes (mutations) in the GK gene, which provides instructions for making an enzyme called glycerol kinase. This enzyme is needed to convert glycerol into a usable form of energy in the body. When this enzyme does not work properly, glycerol builds up in the blood and spills into the urine. The juvenile form of glycerol kinase deficiency typically appears during childhood or adolescence, and it falls between the severe infantile form and the milder adult (benign) form in terms of severity. Children with the juvenile form may experience episodes of metabolic crisis, which can include vomiting, extreme tiredness, low blood sugar (hypoglycemia), and acidosis (too much acid in the blood). Some children may also show developmental delays, growth problems, or mild muscle weakness. Symptoms can be triggered by illness, fasting, or metabolic stress. Treatment is mainly supportive and focuses on preventing metabolic crises through dietary management, avoiding prolonged fasting, and prompt treatment during illness. There is currently no cure for glycerol kinase deficiency, but with careful management, many patients can lead relatively stable lives. Early diagnosis and ongoing monitoring by a metabolic specialist are important for the best outcomes.
Key symptoms:
Episodes of vomitingLow blood sugar (hypoglycemia)Excessive tiredness or fatigueMetabolic acidosis (too much acid in the blood)High levels of glycerol in the blood and urineGrowth delaysMild developmental delaysMuscle weaknessKetotic episodes (buildup of ketones)Poor feeding or appetite during illnessIrritability during metabolic crises
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Juvenile
Begins in the teen years
Treatments
No FDA-approved treatments are currently listed for Glycerol kinase deficiency, juvenile form.
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Specialists
View all specialists →No specialists are currently listed for Glycerol kinase deficiency, juvenile 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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Family & Caregiver Grants
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Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's glycerol kinase deficiency, and could other nearby genes also be affected?,What should our emergency plan look like during illness or if my child cannot eat?,How often does my child need blood tests or metabolic monitoring?,Are there specific dietary guidelines we should follow?,Should female family members be tested as carriers?,What signs should prompt us to go to the emergency room immediately?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Glycerol kinase deficiency, juvenile form
What is Glycerol kinase deficiency, juvenile form?
Glycerol kinase deficiency (GKD), juvenile form, is a rare inherited metabolic condition that affects how the body processes glycerol, a simple fat molecule. The disease is caused by changes (mutations) in the GK gene, which provides instructions for making an enzyme called glycerol kinase. This enzyme is needed to convert glycerol into a usable form of energy in the body. When this enzyme does not work properly, glycerol builds up in the blood and spills into the urine. The juvenile form of glycerol kinase deficiency typically appears during childhood or adolescence, and it falls between the
How is Glycerol kinase deficiency, juvenile form inherited?
Glycerol kinase deficiency, juvenile 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, juvenile form typically begin?
Typical onset of Glycerol kinase deficiency, juvenile form is juvenile. Age of onset can vary across affected individuals.