Immunochemical Characterization of Variant Long-Chain Acyl-CoA Dehydrogenase in Cultured Fibroblasts from Nine Patients with Long-Chain Acyl-CoA Dehydrogenase Deficiency

[Very-long-chain acyl-CoA dehydrogenase deficiency].

Short-chain acyl-CoA dehydrogenase deficiency.

The c.625G>A variant of the short-chain acyl-CoA dehydrogenase (SCAD) gene is considered to confer susceptibility for developing “clinical SCAD deficiency (SCADD)” and appears to be common in the general population. To determine the frequency of the c.625G>A variant in the Netherlands, we analyzed 1036 screening cards of 5to 8-dayold newborns and found 5.5% homozygous and 31.3% heterozygous for...

[Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency].

common disorder of fatty acid oxidation affecting 1 in 13,000 newborns and is inherited as an autosomal recessive disorder. This enzyme deficiency results in the inability to catabolize medium-chain (6-12 carbon molecules) fatty acids for energy utilization. MCAD deficiency often presents in the first two years of life after viral illness or fasting. This inability to break down medium-chain li...

[Medium-chain acyl-CoA dehydrogenase deficiency].

From 65 reported cases of medium chain acyl-CoA dehydrogenase deficiency, we found an average presenting age of 13.5 months and a mean age at death of 18.5 months. One quarter of patients died of a Reye-like syndrome and/or sudden infant death. In half the cases there had been at least one sibling death. Asymptomatic cases were not uncommon (12% of cases). The crises were generally induced by a...

[Short-chain acyl-CoA dehydrogenase (SCAD) deficiency].

inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. Adherence to this guideline does not necessarily ensure a successful medical outcome. In determining the propriety of any specific procedure or test, the clinician should apply his or her own professional judgment to the specific clinical circumstan...