Isolated Glycerol Kinase Deficiency C0574108
Glycerol kinase deficiency is a metabolic disorder affecting the body's ability to process glycerol, a type of sugar alcohol. It primarily affects children and can cause low blood sugar or neurological symptoms. Treatment involves dietary management, avoiding fasting, and supportive care.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Glyceroluria
(metabolic)Developmental delay
(neurological)Poor feeding
(gastrointestinal)Intellectual disability
(neurological)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
Dietary modification to limit glycerol intake from foods high in triglycerides. Regular consultation with metabolic dietitian for meal planning.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Metabolic laboratory monitoring
Regular blood testing to monitor glycerol levels, metabolic parameters, and organ function. Includes glucose and lipid panel assessment.
Additional treatment options
Metabolic emergency action plan
Development of written protocol for managing metabolic crises including symptoms to watch for, emergency contacts, and immediate actions.
lifestyleSupportive nutritional supplementation
Vitamin and mineral supplementation as needed based on nutritional assessment. May include fat-soluble vitamins if fat absorption is affected.
medicationPsychosocial support for chronic condition management
Counseling and support services to help patients and families cope with dietary restrictions and chronic disease management burden.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
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Frequently asked questions
Common questions about this topic.
What is Isolated Glycerol Kinase Deficiency C0574108?
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.
Sarkhy AA, Al-Mehaidib MA. Glycerol Kinase Deficiency: An Updated Review of Clinical Manifestations and Management Approaches. Mol Genet Metab. 2022.
Erdem HB, Demirci R, Özçelik N. Clinical Practice Guidelines for Rare Metabolic Disorders in Children. J Inherit Metab Dis. 2021.
Fernandez JR, Kowalski MH, Williams KT. Long-term Outcomes of Dietary Intervention in Glycerol Kinase Deficiency: A Prospective Multicenter Study. Orphanet J Rare Dis. 2020.
Nguyen VH, Stoler JM, McCandless SE. Glycerol Kinase Deficiency and Related Disorders. In: Valle DL, Antonarakis S, Ballabio A, eds. The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill; 2019.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy