Article
Molecular and biochemical investigations in fumarase deficiency.
Molecular genetics and metabolism - 1 Jun 2006
Deschauer M, Gizatullina Z, Schulze A, Pritsch M, Knöppel C, Knape M, Zierz S, Gellerich F N
Abstract excerpt
Fumarase (FH) deficiency is a rare autosomal recessive disease of the Krebs cycle causing severe neurological impairment in early childhood, characterized by encephalopathy with seizures and muscular hypotonia. Only a handful of patients with various recessive mutations in the FH gene have been described so far. Interestingly, autosomal dominant mutations in the same gene are associated with hereditary...
Topics
- Amino Acid Substitution
- Cell Respiration
- Child, Preschool
- Fatal Outcome
- Fumarate Hydratase
- Fumarates
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Lysine
- Male