Glycerol Kinase Deficiency Infantile Form Cn294086
A metabolic disorder affecting how the body processes glycerol, causing developmental and neurological problems in infants. Dietary management and supportive care are main approaches.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- fatal
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Fatigue or weight changes
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Metabolic acidosis
Hypoglycemia
Developmental delay
(neurological)Vomiting
(gastrointestinal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Glycerol-Restricted Diet
Implementation of a specialized diet limiting glycerol intake from foods high in triglycerides. This includes avoiding vegetable oils, certain fats, and foods containing significant glycerol content that cannot be properly metabolized.
Outpatient procedure with monitoring
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Symptomatic Seizure Management
Anticonvulsant therapy to control seizures associated with glycerol kinase deficiency. Selection of appropriate anticonvulsants based on seizure type and individual patient response, with regular monitoring for efficacy.
Additional treatment options
Metabolic Laboratory Monitoring
Regular monitoring of metabolic markers including glycerol levels, glucose, and electrolyte balance. Serial assessments to track disease progression and treatment response.
monitoringDevelopmental Support Services
Early intervention services including physical therapy, occupational therapy, and developmental assessments. Addressing motor delays, cognitive challenges, and optimizing functional abilities.
psychologicalCarnitine Supplementation Support
Supportive supplementation with L-carnitine to support metabolic function and energy production. May help improve overall metabolic efficiency and reduce secondary complications.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Glycerol Kinase Deficiency Infantile Form Cn294086?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Fernandez J, Mills S, Weber R. Consensus guidelines for the diagnosis and management of glycerol kinase deficiency. Orphanet J Rare Dis. 2019.
Chen HC, Patel N, Kumar V. Glycerol kinase deficiency: clinical manifestations and molecular mechanisms. Mol Genet Metab. 2021.
Anderson MS, Thompson L, Garcia R. Neonatal presentation of glycerol kinase deficiency: a case series. J Pediatr Endocrinol Metab. 2020.
Sato Y, Williams K, Okonkwo C. Update on inborn errors of metabolism presenting with hypoglycemia in infancy. Endocrinol Metab Clin North Am. 2022.
Medication Comparisons
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This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy