Fumarase deficiency (or fumaric aciduria) is an exceedingly rare autosomal recessive metabolic disorder in the Krebs cycle, characterized by a deficiency of the enzyme fumarate hydratase, which causes a …

Impairment of the process that generates energy for cells is particularly harmful to cells in the developing brain, and this impairment results in the signs and symptoms of fumarase deficiency.

Fumarase deficiency is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur …

Fumarase deficiency is a rare genetic disorder affecting the body's metabolism. This condition disrupts a specific enzyme responsible for energy production. It can lead to various health challenges. Although …

Fumarase deficiency (FMRD) is a severe autosomal recessive metabolic disorder characterized by early-onset hypotonia, profound psychomotor retardation, and brain abnormalities, such as agenesis …

Fumarase Deficiency is a very rare disorder, and only around 100 cases have been reported. Although the disorder appears to affect people from many different countries and ethnicities, an unusually high …

Fumarase deficiency is a rare, inherited metabolic disorder caused by a lack of the enzyme fumarase. This enzyme is essential for the Krebs cycle (also known as the citric acid cycle or tricarboxylic acid …

Making energy is particularly important to cells during brain development, so when the enzyme does not work properly, the brain does not develop properly, leading to many of the signs and symptoms of …

Jul 5, 2006 · Fumarate hydratase (FH) deficiency results in severe neonatal and early infantile encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy, and …

Fumarase deficiency is an inherited condition that affects the brain and other parts of the nervous system. Signs and symptoms may include a small head (microcephaly), severe developmental delay, …