Overview
Glycerol kinase deficiency (GKD), infantile form, is a rare inherited metabolic condition that affects how the body processes glycerol, a simple fat molecule. This condition is caused by changes in the GK gene located on the X chromosome. The infantile form is considered a severe presentation that typically appears in the first months of life. Because this Orphanet entry is now marked as obsolete, it has been reclassified under the broader category of glycerol kinase deficiency, which includes a spectrum ranging from a mild (isolated) form to a complex form that may overlap with neighboring gene deletions on the X chromosome. In the infantile form, babies may experience metabolic crises with vomiting, low blood sugar (hypoglycemia), and metabolic acidosis, which means the blood becomes too acidic. Some children also show adrenal insufficiency (where the adrenal glands do not produce enough hormones), developmental delays, and muscle weakness. The condition can be life-threatening if not recognized and treated early. Elevated glycerol levels in the blood and urine are hallmark findings. Treatment focuses on managing metabolic crises, replacing adrenal hormones if needed, and providing supportive care. With early diagnosis and proper management, outcomes can be improved, though the severity varies depending on the extent of the genetic change.
Key symptoms:
Episodes of vomitingLow blood sugar (hypoglycemia)Metabolic acidosis (blood becomes too acidic)Adrenal insufficiency (adrenal glands not working properly)Developmental delayMuscle weaknessPoor feeding in infancyFailure to thrive or poor weight gainLethargy or excessive sleepinessSeizures during metabolic crisesElevated glycerol in blood and urineIntellectual disability in some casesDehydration during illness
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Glycerol kinase deficiency, infantile form.
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Specialists
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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
No travel grants are currently matched to OBSOLETE: Glycerol kinase deficiency, infantile form.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Does my child have the isolated or complex form of glycerol kinase deficiency?,Are neighboring genes like the dystrophin gene or DAX1 gene also affected?,Does my child need adrenal hormone replacement therapy?,What should I do if my child becomes sick — what is the emergency protocol?,What dietary changes should we make?,What developmental therapies would benefit my child?,Should other family members, especially boys, be tested for this condition?
Common questions about OBSOLETE: Glycerol kinase deficiency, infantile form
What is OBSOLETE: Glycerol kinase deficiency, infantile form?
Glycerol kinase deficiency (GKD), infantile form, is a rare inherited metabolic condition that affects how the body processes glycerol, a simple fat molecule. This condition is caused by changes in the GK gene located on the X chromosome. The infantile form is considered a severe presentation that typically appears in the first months of life. Because this Orphanet entry is now marked as obsolete, it has been reclassified under the broader category of glycerol kinase deficiency, which includes a spectrum ranging from a mild (isolated) form to a complex form that may overlap with neighboring ge
How is OBSOLETE: Glycerol kinase deficiency, infantile form inherited?
OBSOLETE: Glycerol kinase deficiency, infantile form follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Glycerol kinase deficiency, infantile form typically begin?
Typical onset of OBSOLETE: Glycerol kinase deficiency, infantile form is infantile. Age of onset can vary across affected individuals.