Fumarase deficiency, also called fumaric aciduria, is an exceedingly rare metabolic disorder of the Krebs cycle that is inherited in an autosomal recessive pattern. It is characterised by a shortage of the enzyme fumarate hydratase, which leads to a buildup of fumaric acid in the urine and a deficiency of malate. The condition is documented in very few people: only 13 cases were known worldwide in 1990. After that, a cluster of 20 cases was documented in the Short Creek Community in Arizona, United States, a population that has practiced successive endogamy, meaning marriage within the group, which raises the chance that both parents carry the same recessive gene change.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 2 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. MedlinePlus Genetics, National Library of Medicine: Fumarase deficiency
MedlinePlus Genetics, National Library of MedicineDescription: nervous systemQuote, Description: nervous system
Fumarase deficiency is a condition that primarily affects the nervous system, especially the brain.
2. Fumarase deficiency (Wikipedia)
Lead section
an exceedingly rare autosomal recessive metabolic disorder in the Krebs cycle
lead sentence 1
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 buildup of fumaric acid in the urine and a deficiency of malate.
Lead: disease category
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 buildup of fumaric acid in the urine and a deficiency of malate.
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