<unk>  is caused by a mutation in the<unk>  hydratase (FH) gene in humans, which encodes the enzyme that converts<unk>  to malate in the mitochondria. Other mutant alleles of the FH gene, located on human Chromosome 1 at position 1q42.1, cause multiple cutaneous and uterine leiomyomata, hereditary leiomyomatosis and renal cell cancer.<unk>  is one of the few known deficiencies of the Krebs cycle or tricarboxylic acid cycle, the main enzymatic pathway of cellular aerobic respiration. inheritance. The condition is an autosomal recessive disorder, and it is therefore usually necessary for an affected individual to receive the mutant allele from both parents. A number of children diagnosed with the disorder have been born to parents who were first cousins. It can also be associated with uniparental isodisomy.
Fumarase deficiency
Enolase deficiency
Dihydropyrimidine dehydrogenase deficiency
Glutaminase deficiency
Phosphofructokinase deficiency
Hexokinase deficiency
Aldolase A deficiency
Transaldolase deficiency