Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset
β Scribed by A. H. M. Smelt; B. J. H. M. Poorthuis; W. Onkenhout; H. R. Scholte; B. S. Andresen; S. G. van Duinen; N. Gregersen; Dr A. R. Wintzen
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 464 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
The pathogenesis of acute fatty liver of pregnancy is unknown, but similarities in the clinical presentation and the histological appearance of the liver with those found in children with metabolic defects in the intramitochondrial fboxidation pathway of the liver suggest that a disturbance in hepat
## Abstract We report on a 6βyearβold girl who presented at 6 months of age with seizures, delayed psychomotor development and mild facial dysmorphism. A small muscular ventricular septal defect was documented on echocardiogram and brain MRI showed a frontal brain anomaly. Urine organic acid analys
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is a life-threatening disorder of mitochondrial fatty acid beta-oxidation. We identified four novel mutations in three unrelated patients. All patients had the severe childhood form of VLCAD deficiency with early onset and high mortality. Imm