fumarase deficiency (fumaric aciduria)

Pathology

• cerebral atrophy

Genetics

associated with defects in fumarase gene

Clinical manifestations

• progressive encephalopathy
• developmental delay
• hypotonia

Laboratory

• lactic acidemia
• pyruvate acidemia

More general terms

• carbohydrate inborn error of metabolism

Additional terms

• hereditary leiomyomatosis & renal cell cancer (HLRCC)
• multiple cutaneous & uterine leiomyomata (MCUL1)

Database

• OMIM: https://mirror.omim.org/entry/606812