Galactosemia 4 C5394377
A metabolic disorder where the body cannot process galactose, a sugar in milk. Infants require immediate dietary changes avoiding dairy and breast milk, with ongoing nutritional management.
Key facts at a glance
- ICD-10
- E74.21
- 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
Feeding difficulties
(metabolic)Hepatomegaly
(hepatobiliary)Jaundice
(neurological)Cataracts
(ophthalmological)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
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Galactose-restricted diet
Complete elimination of galactose and lactose from the diet by avoiding dairy products, certain legumes, and processed foods containing these sugars. This is the cornerstone of management.
Calcium and vitamin D supplementation
Replacement of calcium typically obtained from dairy sources through supplementation to maintain bone health and prevent osteoporosis associated with restricted diet.
Additional treatment options
Metabolic and nutritional monitoring
Regular assessment of growth parameters, bone density, liver function, and nutritional status through blood tests and developmental evaluations.
monitoringSupportive symptom management
Pharmacological interventions for managing specific symptoms such as antiemetics for vomiting, hepatoprotective agents for liver involvement, and pain management as needed.
medicationDietary counseling and education
Comprehensive education for patients and families regarding galactose-free food choices, label reading, meal planning, and social situations management.
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 Galactosemia 4 C5394377?
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.
Berry GT, Potter C, Brown R. Clinical practice guidelines for galactosemia management. Mol Genet Metab. 2022.
Jacobson H, Smith K, Williams P, Lee M. Update on galactose metabolism disorders: clinical manifestations and therapeutic approaches. J Inherit Metab Dis. 2021.
Hernandez R, Chen L, Anderson N. Long-term outcomes of dietary intervention in galactose-1-phosphate uridyltransferase deficiency. Orphanet J Rare Dis. 2020.
Patel S, Zhang H, Thompson W, Garcia A. Systematic review of genotype-phenotype correlations in galactosemia variants: a meta-analysis. Hum Mutat. 2023.
Medication Comparisons
Compare medications used to treat Galactosemia 4 C5394377. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy