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[Metabolic triglyceride storage disorders. A report of 2 cases of systemic carnitine deficiency]
Insights
Systemic carnitine deficiency caused severe triglyceride storage in infants
Area of Science:
- Biochemistry
- Pediatric Pathology
- Metabolic Disorders
Background:
- Systemic carnitine deficiency is a rare inherited metabolic disorder.
- It affects fatty acid metabolism, leading to carnitine depletion.
Observation:
- Two infant cases presented with severe triglyceride accumulation in liver, kidney, heart, and skeletal muscle.
- Clinical signs included encephalopathy, hypoglycemia, liver enlargement, and cardiorespiratory distress.
- Histochemical and histochromatographic analyses confirmed triglyceride storage.
Findings:
- Triglyceride accumulation in multiple organs is characteristic of systemic carnitine deficiency.
- Low maternal carnitine levels were observed in both cases, suggesting potential vertical transmission.
- This study describes carnitine deficiency in a neonate, previously undocumented.
Implications:
- Early diagnosis and intervention are crucial for managing systemic carnitine deficiency.
- Understanding the clinical spectrum of carnitine deficiency aids in recognizing neonatal presentations.
- Further research into the genetic and biochemical basis of carnitine transport is warranted.
Abstract:
Two cases of triglyceride storage in liver, kidney, heart, and skeletal muscle are described in infants who died at the age of 1 1/2 years and 4 d, respectively. In the first patient, a previously normal girl, the clinical symptoms began two months before death with encephalopathy (vomiting, unconsciousness), liver enlargement, hypoglycemia, increase in serum transaminases. These signs disappeared within the following days. Some weeks later she died during the second attack. The 4-d-old boy, the second child of healthy consanguineous parents, showed at the third day of life an impaired sucking, muscular hypotonia, respiratory arrest and bradycardia. An intensive therapy was inefficient. At autopsy gross examination showed only a moderately enlarged yellow liver and an edematous brain in the first case and pale organs in the second one but no cause of death. The microscopial examination of all tissues of both cases showed fat storage within the four organs mentioned above. The common histochemical methods for neutral lipids were positive, the Schultz-reaction for cholesterol and cholesterol esters was negative. The lipid loaden cells did not show birefringence in polarized light. A predominance and strong fat storage of the type I fibres was found in the skeletal muscle. The storage of triglyceride could be confirmed by histochromatography, a thin-layer chromatography of tissue sections. The triglyceride accumulation in liver, heart, kidney, and skeletal muscle is a characteristic feature of systemic carnitine deficiency. The clinical symptoms of the first patient are in agreement with reports of this disease also. A carnitine deficiency in a newborn was not yet described. Family studies revealed a low carnitine concentration in the mother's serum in both cases, while the serum of father and brother resp. sister showed normal carnitine levels.