Deficiency Of Udpglucose Hexose 1 Phosphate Uridylyltransferase C0268151
Classic galactosemia results from inability to convert galactose into glucose due to missing the GALT enzyme. Infants present with feeding difficulties, jaundice, and liver problems after starting milk feeds. Lifelong avoidance of galactose through strict dietary control is the primary treatment.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Neonatal jaundice
Hepatomegaly
Cataracts
E. coli sepsis
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
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
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Galactose-restricted diet
Complete elimination of galactose and lactose from the diet is the cornerstone of treatment for classic galactosemia. This involves avoiding all dairy products, legumes, and processed foods containing galactose.
Regular metabolic and developmental monitoring
Routine monitoring of growth parameters, liver function, and developmental milestones helps identify complications early. Regular ophthalmologic exams detect cataracts that may develop despite dietary restriction.
Additional treatment options
Calcium and vitamin D supplementation
Calcium and vitamin D supplementation may be necessary for galactosemic patients on restricted diets to maintain bone health and prevent osteoporosis.
dietaryCataract surgery
Surgical removal of cataracts may be necessary if lens opacities significantly impair vision despite dietary management. Early intervention supports normal visual development in children.
procedureNutritional counseling and family support
Genetic counseling and ongoing nutritional education help families manage the complex dietary restrictions and cope with the chronic nature of the condition.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Deficiency Of Udpglucose Hexose 1 Phosphate Uridylyltransferase C0268151?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Deficiency Of Udpglucose Hexose 1 Phosphate Uridylyltransferase C0268151. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy