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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
Related
hereditary leiomyomatosis & renal cell cancer (HLRCC)
multiple cutaneous & uterine leiomyomata (MCUL1)
General
carbohydrate inborn error of metabolism
Database Correlations
OMIM 606812
References
OMIM :accession 606812