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Primary carnitine deficiency is a life-long disease
Loek L Crefcoeur1,2, Mireille C Melles3, Tobias A Bruning3
1Department of Metabolic Diseases Wilhelmina Children's Hospital, University Medical Center Utrecht Utrecht Netherlands.
JIMD Reports
|November 7, 2022
Summary
Primary carnitine deficiency can cause reversible heart failure if treatment is stopped. Consistent carnitine supplementation and monitoring are crucial for managing this metabolic disorder throughout life.
Area of Science:
- Metabolic disorders
- Cardiology
- Genetics
Background:
- Primary carnitine deficiency is a rare, autosomal recessive disorder.
- It presents with hypoketotic hypoglycemia, cardiomyopathy, and risk of sudden cardiac death.
- Carnitine supplementation is an effective treatment.
Observation:
- A patient diagnosed with primary carnitine deficiency at 18 months experienced full recovery with carnitine supplementation.
- He discontinued medication and monitoring in adolescence.
- At age 29, he presented with severe heart failure and atrial fibrillation.
Findings:
- Intravenous and oral carnitine supplementation led to improved cardiac function and normalized ejection fraction within weeks.
- This recurrence of severe heart failure was directly linked to non-compliance with carnitine supplementation and monitoring.
- The cardiomyopathy was reversible in this adult patient.
Implications:
- Highlights the critical need for continuous monitoring of patients with metabolic diseases.
- Underscores the potential for reversibility of cardiomyopathy in adults with primary carnitine deficiency.
- Emphasizes risks during the transition from pediatric to adult care, stressing the importance of patient education and self-management.
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