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Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathy
Insights
This study details lipid storage myopathy with hypertrophic cardiomyopathy in siblings. DL-carnitine treatment improved muscle weakness and cardiac symptoms by reducing lipid accumulation.
Area of Science:
- Biochemistry
- Genetics
- Cardiology
Background:
- Lipid storage myopathies are a group of inherited metabolic disorders characterized by the abnormal accumulation of lipids in muscle tissue.
- Hypertrophic cardiomyopathy (HCM) is a cardiac condition where the heart muscle becomes abnormally thick.
Observation:
- Two Japanese siblings presented with progressive muscle weakness and hypertrophic cardiomyopathy.
- Muscle biopsy revealed lipid droplet accumulation, type 2 fiber atrophy, and type 2B fiber deficiency.
- Reduced carnitine levels were observed in skeletal muscle and serum.
Findings:
- The siblings were diagnosed with lipid storage myopathy and hypertrophic cardiomyopathy.
- Histochemical analysis confirmed significant lipid accumulation in muscle fibers, particularly type 1.
- Cardiac muscle in one sibling also showed excessive lipid deposition.
Implications:
- This case highlights the potential link between lipid storage myopathy and hypertrophic cardiomyopathy.
- Carnitine deficiency may play a role in the pathogenesis of this condition.
- DL-carnitine supplementation demonstrated therapeutic efficacy, improving clinical symptoms and reducing lipid burden.
Abstract:
Two Japanese siblings had lipid storage myopathy with hypertrophic cardiomyopathy (HCM). They had slowly progressive muscle weakness and ventricular hypertrophy of the heart evidenced by electrocardiography and echocardiography. Their developmental milestones were normal until three years of age when mild weakness in the lower limbs became evident. Laboratory examination showed transient high creatine kinase levels (CK) and hyperammonemia. Histochemical investigation on the muscles revealed abnormal accumulation of sudanophilic lipid droplets predominantly in type 1 fibers, type 2 A fiber atrophy and type 2 B fiber deficiency. In case 1, excessive lipid droplets were also observed in the biopsied cardiac muscle. Carnitine was decreased in the skeletal muscles and the serum. Treatment with DL-carnitine to both cases resulted in marked clinical improvement and decreased lipid droplets in the muscles.