Article
Fumaric aciduria: mild phenotype in a 8-year-old girl with novel mutations.
Journal of inherited metabolic disease - 1 Oct 2006
Maradin M, Fumić K, Hansikova H, Tesarova M, Wenchich L, Dorner S, Sarnavka V, Zeman J, Barić I
Abstract excerpt
Fumaric aciduria is a rare, autosomal recessive disorder caused by deficient activity of fumarate hydratase (FH). Common clinical features are hypotonia, failure to thrive, severe psychomotor retardation and seizures. Facial dysmorphism and brain malformations are frequent. Recently, some FH gene mutations have been associated with inherited cutaneous and uterine leiomyomas and papillary renal cell cancer. Our...
Topics
- Brain
- Child
- Family Health
- Female
- Fumarate Hydratase
- Humans
- Magnetic Resonance Imaging
- Metabolism, Inborn Errors
- Mutation
- Phenotype