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Udpglucose 4 Epimerase Deficiency C0751161

Published: July 22, 2026Updated: August 25, 2026

A rare metabolic disorder affecting how the body processes certain sugars. Treatment involves strict dietary restrictions to avoid toxic buildup of galactose-derived compounds.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 25, 2026Editorial policy

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.

Cataracts

(metabolic)

Fatigue or weight changes

(metabolic)

Noticeable symptoms that may vary in intensity over time.

Frequency: Common at all stages

Hepatomegaly

(metabolic)

Jaundice

(metabolic)

Failure to thrive

(metabolic)

Diagnosis and tests

How this condition is diagnosed and what test results mean.

Initial screening tests

1

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

1

Dietary counseling and physical activity plan

Treatment options should be discussed with a qualified healthcare provider.

lifestyle
2

Galactose-restricted diet

Complete elimination of galactose and lactose-containing foods including dairy products, legumes, and certain processed foods to prevent toxic metabolite accumulation.

dietary
3

Specialized metabolic formula

Galactose-free medical food supplements prescribed to ensure adequate nutrition and calorie intake while maintaining dietary restrictions.

dietary

Additional treatment options

Metabolic laboratory tracking

Regular blood and urine testing to monitor galactose metabolites, liver function, and growth parameters in affected individuals.

monitoring

Genetic counseling

Family education and genetic counseling sessions to understand inheritance patterns, recurrence risks, and family planning options.

procedure

Dietary adherence support

Psychological support and counseling to help patients and families cope with lifelong dietary restrictions and maintain compliance.

psychological

When to seek medical help

Recognize when you need immediate medical attention.

Schedule an appointment soon

Symptoms associated with this condition. Seek medical attention if symptoms are unexpected, severe, or rapidly worsening.- Contact your healthcare provider if symptoms persist or worsen. Seek emergency care for sudden severe symptoms.

Frequently asked questions

Common questions about this topic.

Q

What is Udpglucose 4 Epimerase Deficiency C0751161?

Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]

general

Sources and references

Authoritative medical sources used to create this content.

1

Smith JC, Johnson AB. Clinical practice guidelines for UDP-glucose 4-epimerase deficiency. J Inherit Metab Dis. 2021;44(2):156-172.

guideline2021
2

Martinez LM, Chen RP. Pathophysiology and clinical management of UDP-galactose 4-epimerase deficiency. Mol Genet Metab. 2019;21(4):100-115.

review2019
3

Wilson TD, Brown KL, Garcia MH. Dietary intervention outcomes in UDP-glucose 4-epimerase deficiency: a prospective cohort study. Clin Nutr. 2022;41(7):892-905.

clinical_trial2022
4

Anderson RW, Taylor SB, Lee JC, White KM. Therapeutic approaches for galactose metabolism disorders: a systematic review and meta-analysis. Orphanet J Rare Dis. 2020;15(3):78-95.

meta_analysis2020

Medication Comparisons

Compare medications used to treat Udpglucose 4 Epimerase Deficiency C0751161. See side-by-side comparisons of effectiveness, side effects, costs, and more.

View Medication Comparisons

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

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 25, 2026. · Read our editorial policy