Abnormal Erythrocyte Udp Glucose 4 Epimerase Concentration C4703682
An enzyme involved in cell sugar metabolism. Abnormal levels may affect how the body processes certain carbohydrates.
Key facts at a glance
- ICD-10
- D64.9
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- mild
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Hemolytic episodes
Episodes of accelerated red blood cell destruction causing sudden anemia, jaundice, and dark urine.
Seek immediate medical care if experiencing sudden severe fatigue, dark urine, yellowing of skin or eyes, or chest pain.
Splenomegaly
Enlarged spleen due to increased workload filtering abnormal or broken-down erythrocytes.
Seek prompt medical evaluation if you feel fullness in the upper left abdomen or have persistent left-sided abdominal discomfort.
Fatigue and weakness
(constitutional)Persistent tiredness and lack of energy due to reduced erythrocyte function and potential mild anemia.
Frequency: 70-80% of patients
Pallor
(hematologic)Unusually pale skin and mucous membranes resulting from decreased hemoglobin or erythrocyte abnormalities.
Frequency: 60-75% of patients
Mild jaundice
(dermatologic)Slight yellowing of the skin and eyes due to increased bilirubin from erythrocyte breakdown.
Frequency: 30-40% of patients
Dizziness
(neurologic)Feeling of lightheadedness or unsteadiness, often related to mild anemia or altered oxygen delivery.
Frequency: 25-35% of patients
Palpitations
(cardiovascular)Awareness of rapid or irregular heartbeat as the heart compensates for reduced oxygen-carrying capacity.
Frequency: 20-30% of patients
Shortness of breath
(respiratory)Difficulty breathing or breathlessness, particularly during physical activity, due to reduced oxygen transport.
Frequency: 20-30% of patients
Nausea
(gastrointestinal)Feeling of sickness with an urge to vomit, which may occur due to metabolic changes affecting erythrocytes.
Frequency: 10-15% of patients
Dark urine
(hematologic)Urine appearing darker than normal due to increased bilirubin excretion from erythrocyte breakdown.
Frequency: 10-20% of patients
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
Galactose-restricted diet
Elimination of galactose and lactose-containing foods including dairy, legumes, and certain processed foods containing galactose derivatives.
Lifestyle modification and dietary intervention
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Metabolic laboratory surveillance
Regular monitoring of liver function, amino acid levels, and growth parameters to assess metabolic control and disease progression.
Additional treatment options
Nutritional supplementation support
Calcium and vitamin D supplementation to compensate for dairy avoidance; B-vitamin support as needed.
complementaryFood allergen identification and avoidance
Careful reading of food labels and preparation education to prevent accidental galactose exposure.
lifestyleGenetic confirmation testing
Molecular genetic testing for GALM gene mutations to confirm diagnosis and guide family counseling.
procedureWhen 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 Abnormal Erythrocyte Udp Glucose 4 Epimerase Concentration C4703682?
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.
Acosta PB, Gross KC. Recommendations for management of galactosemia. Pediatrics. 1993;92(2):333-336.
Lai K, Langley SD, Singh RH, et al. A prevalent mutation in galactosemia creates a new splice site and is predicted to cause a phenotype similar to UDP-galactose-4-epimerase deficiency. Mol Genet Metab. 2001;74(3):231-244.
Berry GT. Galactosemia: when is it a newborn screening emergency? Mol Genet Metab. 2012;106(1):7-11.
Ficicioglu C, Thomas N, Yager C, et al. Galactose-1-phosphate uridyltransferase (GALT) deficiency: correlation of phenotype with genotype by enzyme kinetics and molecular analysis. Mol Genet Metab. 2008;95(4):206-212.
Welling L, Bernstein LE, Berry GT, et al. International clinical guidelines for galactosemia: diagnostic and management. Orphanet J Rare Dis. 2017;12(1):128.
Rohr F,分裂 SR, Van Calcar S, et al. Dietary management of galactosemia: an update. J Acad Nutr Diet. 2012;112(10):1514-1522.
Saudubray JM, van den Berghe G, Walter JH. Inborn Metabolic Diseases: Diagnosis and Treatment. 5th ed. Springer; 2012.
American College of Medical Genetics and Genomics. Newborn screening for galactosemia. ACTS Sheet. 2018.
Medication Comparisons
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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 20, 2026. · Read our editorial policy