Abnormal Enzyme Activity In Cultured Fibroblasts C5872944
A laboratory finding showing abnormal enzyme activity in skin cell cultures. This test is often used to help diagnose certain inherited metabolic or genetic disorders.
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.
Warning signs - seek immediate care
Cardiomyopathy
Disease of the heart muscle that affects its ability to pump blood effectively.
Seek immediate care if experiencing chest pain, severe shortness of breath, or fainting episodes.
Respiratory failure
Inability of the respiratory system to maintain adequate oxygen exchange.
Seek emergency care immediately for severe difficulty breathing, bluish lips or fingertips, or altered consciousness.
Chronic fatigue
(constitutional)Persistent feeling of tiredness and lack of energy that is not relieved by rest.
Frequency: 70-80% of patients
Muscle weakness
(neurologic)Reduced muscle strength making it difficult to perform everyday activities.
Frequency: 65-75% of patients
Exercise intolerance
(constitutional)Inability to sustain physical activity due to rapid onset of fatigue or muscle pain.
Frequency: 50-60% of patients
Growth delay
(constitutional)Failure to grow at the expected rate for age and gender.
Frequency: 40-50% of patients
Elevated lactic acid
(metabolic)Abnormally high levels of lactic acid in blood, indicating metabolic dysfunction.
Frequency: 45-55% of patients
Developmental delay
(neurologic)Slowing or failure to meet developmental milestones in children.
Frequency: 20-30% of patients
Hepatomegaly
(gastrointestinal)Enlargement of the liver beyond its normal size.
Frequency: 15-20% of patients
Hypotonia
(neurologic)Reduced muscle tone resulting in floppy or loose muscles, especially in infants.
Frequency: 35-45% 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
Exercise prescription and weight management
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Metabolic disease specialist referral
Referral to metabolic/genetic specialists for comprehensive evaluation and management of suspected inborn errors of metabolism detected through fibroblast enzyme studies.
Disease-specific nutritional therapy
Customized dietary modifications based on the specific enzyme deficiency identified, which may include enzyme replacement foods, special formulas, or restricted nutrient intake.
Additional treatment options
Co-factor supplementation evaluation
Assessment for vitamin and cofactor deficiencies common in metabolic disorders, with supplementation when indicated to optimize residual enzyme function.
complementaryRegular biochemical monitoring
Ongoing laboratory surveillance of metabolic markers, organ function, and disease progression to guide treatment adjustments.
monitoringFamily education and support program
Comprehensive education for patients and families regarding disease management, emergency protocols, and lifestyle modifications for chronic metabolic conditions.
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 Abnormal Enzyme Activity In Cultured Fibroblasts C5872944?
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.
American College of Medical Genetics and Genomics. Clinical Laboratory Standards for Enzymatic Testing for Lysosomal Storage Diseases. ACMG Guidelines. 2020.
Watson MS, Lloyd-Puryear MA, Mann MY, Rinaldo P, Howell RR. Newborn screening: toward a uniform screening panel and system. ACMG Secondary Conditions Working Group. Genetics in Medicine. 2006;8(Suppl 1):1S-252S.
Mechler K, Mountford WK, Hoffmann GF, Ries M. Enzyme replacement therapy in patients with mucopolysaccharidoses: diagnosis and treatment. Journal of Inherited Metabolic Disease. 2015;38(5):551-564.
Giugliani R, Federhen A, Vairo F, et al. Emerging therapies for mucopolysaccharidoses: a review of clinical trial evidence. Molecular Genetics and Metabolism. 2020;131(1-2):143-158.
Clarke LA, Giugliani R, Guffon N, et al. Consensus recommendations on diagnosis, treatment, and monitoring for mucopolysaccharidosis I. Journal of Pediatrics. 2009;155(4):S32-S46.
Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. McGraw-Hill; 2001.
Müller KB, Rodrigues MD, Pereira VG, et al. Systematic review of enzyme replacement therapy efficacy in mucopolysaccharidosis: evidence-based recommendations for clinical practice. Molecular Genetics and Metabolism. 2019;128(4):346-357.
American Academy of Pediatrics Committee on Genetics. Clinical genetics testing: policy statement. Pediatrics. 2000;105(2):445-447.
Harmatz P, Whitley CB, Waber L, et al. Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): a randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine-4-sulfatase (arylsulfatase B). Journal of Pediatrics. 2004;144(5):581-588.
Filocamo M, Bonuccelli G, Corsolini F, et al. Molecular analysis and enzymatic diagnosis of mucopolysaccharidoses: results of a collaborative Italian study. Journal of Inherited Metabolic Disease. 2004;27(2):267-275.
Medication Comparisons
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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