very long-chain acyl-CoA dehydrogenase deficiency

A condition characterised by a deficiency of very long-chain acyl-CoA dehydrogenase, which catalyses the first step of mitochondrial beta-oxidation of long-chain (14 to 20 carbons) fatty acids.
Phenotypes
• Severe early onset cardiac and multiorgan failure form—presents in early infancy with hypertrophic or dilated cardiomyopathy, pericardial effusion, arrhythmias, hypotonia, hepatomegaly and intermittent hypoglycaemia.
• Hepatic/hypoketotic hypoglycemic form—presents during early childhood with hypoketotic hypoglycaemia and hepatomegaly, but no cardiomyopathy.
• Later-onset episodic myopathic form—presents with intermittent rhabdomyolysis, muscle cramps and/or pain, and/or exercise intolerance. Hypoglycaemia is typically absent.
Molecular pathology
VLCAD deficiency is due to a ACADVL mutation.

Management
Supportive IV glucose, treat arrhythmias, monitor rhabdomyolysis.
Dietary modification
Low-fat, supplemental calories with medium-chain triglycerides.
Prevention of complications
Acute rhabdomyolysis is treated with hydration and alkalisation of urine to protect renal function and prevent acute renal failure due to myoglobinuria.
Avoid
Fasting, myocardial irritation, dehydration, fatty foods.

单词	very long-chain acyl-coa dehydrogenase deficiency
释义	very long-chain acyl-CoA dehydrogenase deficiency very long-chain acyl-CoA dehydrogenase deficiency A condition characterised by a deficiency of very long-chain acyl-CoA dehydrogenase, which catalyses the first step of mitochondrial beta-oxidation of long-chain (14 to 20 carbons) fatty acids. Phenotypes • Severe early onset cardiac and multiorgan failure form—presents in early infancy with hypertrophic or dilated cardiomyopathy, pericardial effusion, arrhythmias, hypotonia, hepatomegaly and intermittent hypoglycaemia. • Hepatic/hypoketotic hypoglycemic form—presents during early childhood with hypoketotic hypoglycaemia and hepatomegaly, but no cardiomyopathy. • Later-onset episodic myopathic form—presents with intermittent rhabdomyolysis, muscle cramps and/or pain, and/or exercise intolerance. Hypoglycaemia is typically absent. Molecular pathology VLCAD deficiency is due to a ACADVL mutation. Management Supportive IV glucose, treat arrhythmias, monitor rhabdomyolysis. Dietary modification Low-fat, supplemental calories with medium-chain triglycerides. Prevention of complications Acute rhabdomyolysis is treated with hydration and alkalisation of urine to protect renal function and prevent acute renal failure due to myoglobinuria. Avoid Fasting, myocardial irritation, dehydration, fatty foods.
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