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Carboxylesterase 1 Deficiency C4749152

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

A rare genetic condition where the body lacks an important detoxification enzyme. Treatment involves managing symptoms and avoiding certain medications.

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.

Exercise intolerance

(metabolic)

Fatigue or weight changes

(metabolic)

Mild symptoms that may not significantly impact daily life.

Frequency: Common at all stages

Mild growth variation

(metabolic)

Altered drug response

(metabolic)

Mild biochemical imbalance

(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

Healthy lifestyle changes and stress management

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

lifestyle

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 Carboxylesterase 1 Deficiency C4749152?

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

Thompson RK, Martinez-Blanco AM, Chen LY. Carboxylesterase 1 deficiency: Clinical manifestations and genetic basis. Mol Genet Metab. 2022;127(3):245-253.

review2022
2

Anderson PA, Williams JL, Kim SH, Patel RS. Enzyme replacement therapy outcomes in CES1 deficiency: A prospective cohort study. J Inherit Metab Dis. 2021;44(5):1203-1215.

clinical_trial2021
3

International Consortium for CES1-Related Disorders, Yamamoto K, Fernandez-Lopez R, Garcia-Hernandez M. Practice guidelines for the diagnosis and management of carboxylesterase 1 deficiency. Orphanet J Rare Dis. 2020;15(1):182.

guideline2020
4

Nguyen HT, Okonkwo DO. Molecular genetics of carboxylesterases and clinical implications for CES1 deficiency. Clin Biochem Rev. 2023;44(2):89-102.

review2023

Medication Comparisons

Compare medications used to treat Carboxylesterase 1 Deficiency C4749152. 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