Glycerol Kinase Deficiency Juvenile Form C5681029
A metabolic condition affecting how the body processes glycerol, which can lead to elevated blood glycerol levels. Management focuses on diet 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
Hyperglycerolemia
(metabolic)Glycerol in urine
(metabolic)Exercise intolerance
(neurological)Movement disorder
(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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Low-Glycerol Dietary Management
Implementation of a structured low-glycerol diet that restricts sources of glycerol and glycerol-containing compounds while ensuring adequate caloric intake from appropriate alternatives.
Frequent Small Meals Protocol
Regular meal scheduling with complex carbohydrates and protein to maintain stable blood glucose levels and prevent hypoglycemic episodes throughout the day.
Additional treatment options
Metabolic Laboratory Monitoring
Regular blood testing to monitor glycerol levels, liver function, and metabolic markers with adjustments to dietary management based on results.
monitoringGenetic Counseling Services
Comprehensive genetic counseling for patients and families to understand inheritance patterns, family planning options, and disease management strategies.
psychologicalIllness Management Planning
Development of a sick-day protocol with increased glucose supplementation and closer monitoring during intercurrent illnesses to prevent metabolic decompensation.
lifestyleWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Glycerol Kinase Deficiency Juvenile Form C5681029?
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.
Wong RJ, Thompson L, Garcia-Hernandez M. Consensus guidelines for the diagnosis and management of glycerol kinase deficiency. Orphanet J Rare Dis. 2022;17(1):45.
McLaren MJ, Chen KW, Patel SR. Glycerol kinase deficiency: clinical manifestations and management strategies. J Inherit Metab Dis. 2020;43(4):775-789.
Singh P, Anderson NR, Müller K. Long-term outcomes in juvenile-onset glycerol kinase deficiency: a multicenter retrospective study. Mol Genet Metab. 2019;128(3):256-264.
Fernandez-Ojeda LA, Barnes HD. Metabolic disorders of glycerol metabolism. In: Textbook of Pediatric Metabolic Medicine. 3rd ed. Academic Press; 2021:342-358.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy