Fumarase Deficiency
...in its cytoplasmic form. A missing targeting peptide is a frame shift mutation. The entire reading frame is altered from the original. In the mutated reading frame the fumarase is disabled leading to a fumarase deficiency. Mutations at this same gene also cause hereditary multiple cutaneous and uterine leiomyomatosis and hereditary leiomyomatosis and renal cell cancer. Certain defects of the FH gene lead to a fumarase deficiency which causes progressive encephalopathy. The symptoms of progressive encephalopathy include developmental delay, hypotonia, cerebral atrophy, lactic and pyruvic academia and fumaricaciduria. In the case of a male infant diagnosed with progressive encephalopathy, (at age one month) failed to grow and suffered from all described symptoms, the patient died at eight months. Mitochondrial samples were tak...