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Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
1Unit of Child Neurology, Hospital for Children and Adolescents, Helsinki University Central Hospital, Finland.
Acta Paediatrica (Oslo, Norway : 1992)
|May 6, 1999
Summary
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, a common inherited metabolic disorder, presents in infancy. Early diagnosis is crucial due to available treatments and prenatal testing.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a recently identified defect in mitochondrial fatty acid beta-oxidation.
- It is the most common beta-oxidation defect diagnosed in Finland, often caused by the G1528C mutation.
Purpose of the Study:
- To highlight the clinical features, diagnosis, and genetic basis of LCHAD deficiency.
- To emphasize the importance of early recognition for therapeutic and prenatal diagnostic opportunities.
Main Methods:
- Diagnosis is suggested by elevated 3-hydroxylated acylcarnitine species in blood.
- Definitive diagnosis involves measuring fatty acid beta-oxidation intermediates in fibroblasts or genetic mutation analysis.
Main Results:
- The G1528C mutation has a carrier frequency of 1:240 in Finland.
- LCHAD deficiency presents with hypoglycemia, hepatic steatosis, cardiomyopathy, neuropathy, and chorioretinopathy.
Conclusions:
- LCHAD deficiency is a significant inherited metabolic disorder with distinct clinical manifestations.
- Early diagnosis and intervention are vital for managing LCHAD deficiency and its complications.