14 research outputs found
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
A new case of 3-hydroxyacyl-CoA dehydrogenase deficiency is described with a relatively benign course
Commentary: Neonatal onset in fatty acid oxidation disorders: How can we minimize morbidity and mortality?
Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants
Neonatal medium-chain acyl-CoA dehydrogenase deficiency presenting with very high creatine kinase levels
Clinical and Biochemical Findings of a Patient with Thanatophoric Dysplasia Type I: Additional Finding of Dicarboxylic Aciduria
Optimization of allopurinol challenge: Sample purification, protein intake control, and the use of orotidine response as a discriminative variable improve performance of the test for diagnosing ornithine carbamoyltransferase deficiency
The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Four patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency are presented. Clinical onset in the form of acute encephalopathy occurred between the ages of 9 months and 3 years. The clinical course included recurrent metabolic crises in 4 patients, cardiac involvement and retinopathy in 3, and myopathy in 2. None had signs of peripheral neuropathy. Three patients died and one is currently well. Hypoketotic hypoglycemia with C6-C14 3-hydroxy-dicarboxylic aciduria during metabolic crises associated with decreased plasma carnitine levels was the main biochemical finding. Enzymologic studies disclosed long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency in all patients. Homozygosity for a G to C mutation at position 1528 in the encoding region of the enzyme was found in 2 patients. Histologic and electron microscopic studies of liver biopsy specimens revealed steatosis in 3 patients and mitochondrial abnormalities in 2. Skeletal muscle biopsies disclosed nonspecific degenerative changes in 2 patients and were normal in the remaining 2. Ultrastructural abnormalities in mitochondria were found in 3 patients. A review of the literature combined with the data from our series (total 22 patients) disclosed acute clinical onset in 77% of cases and subacute in 23%. In the combined series, the average age at onset was 11 months, family history was positive in 32% of patients and overall mortality was 50%. We describe the clinical spectrum of this disease and emphasize that, among patients with suspected beta-oxidation defects the finding of pigmentary retinopathy should lead to the suspicion of long-chain 3-hydroxyacyl-coenzyme A-dehydrogenase deficienc