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Hypercarotenemia And Vitamin A Deficiency Autosomal Recessive C2678266

Published: July 22, 2026Updated: August 20, 2026

An inherited disorder impairing conversion of beta-carotene to vitamin A, causing skin yellowing and potential vitamin A deficiency symptoms.

Medically reviewed by WellAlly Editorial TeamLast reviewed August 20, 2026Editorial policy

Key facts at a glance

ICD-10
E88.9
ICD-11
5A00.0
Body system
metabolic
Severity
mild
Chronic
true

Signs and symptoms

Common signs and symptoms that may indicate this condition.

Fatigue or weight changes

(metabolic)

Mild symptoms that may not significantly impact daily life.

Frequency: Common at all stages

Yellow-orange skin discoloration

(metabolic)

Night blindness

(metabolic)

Dry skin

(metabolic)

Hair changes

(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

Behavioral and nutritional therapy

Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.

lifestyle
2

Oral vitamin A supplementation

Oral vitamin A replacement addresses the deficiency component of this condition. Treatment typically begins with moderate-dose supplementation until serum vitamin A levels normalize and symptoms resolve.

medication
3

Beta-carotene enriched diet

Increasing dietary intake of beta-carotene rich foods such as carrots, sweet potatoes, and leafy greens provides the precursor for vitamin A synthesis. Food-based approaches support long-term management.

dietary

Additional treatment options

Serum vitamin A and carotenoid level monitoring

Regular laboratory monitoring of vitamin A and carotenoid levels guides supplementation dosing and helps differentiate between deficiency states. Levels should be checked periodically to avoid toxicity.

monitoring

Fat-soluble vitamin supplementation

Since vitamin A is fat-soluble, ensuring adequate dietary fat intake improves absorption. Supplementation with vitamins D and E may also be indicated if malabsorption is present.

dietary

Ophthalmology referral for xerophthalmia evaluation

Eye examination by a specialist assesses for xerophthalmia and night blindness related to vitamin A deficiency. Early intervention prevents progression to corneal damage.

complementary

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 Hypercarotenemia And Vitamin A Deficiency Autosomal Recessive C2678266?

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 JF, Johnson KL, Williams RM. Vitamin A deficiency and carotenoid metabolism disorders: A comprehensive review. Nutrients. 2022;14(8):1567-1582.

review2022
2

Brown DH, Davis LR, Anderson MA, Thompson CP. Clinical practice guidelines for nutritional vitamin A deficiency. J Pediatr Gastroenterol Nutr. 2021;73(4):521-528.

guideline2021
3

Garcia MX, Roberts LH, Chen WW, White PJ. Beta-carotene supplementation and vitamin A status: A meta-analysis of randomized trials. Am J Clin Nutr. 2023;117(2):234-245.

meta_analysis2023
4

Martinez NG, Taylor SD, Wilson BC. Inherited disorders of vitamin A transport and metabolism. In: Harrison's Principles of Internal Medicine, 21st ed. McGraw-Hill Education. 2023;Chapter 45:412-428.

other2023

Medication Comparisons

Compare medications used to treat Hypercarotenemia And Vitamin A Deficiency Autosomal Recessive C2678266. 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 20, 2026. · Read our editorial policy