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last update : 10-09-2012
Symbol FHD
Location 1q42.1
Name fumarate hydratase deficiency
Other name(s) fumaric aciduria
Corresponding gene FH
Main clinical features
  • progressive encephalopathy with failure to thrive, microcephaly, hypotonia, developmental delay; on MRI, generalized brain atrophy and hypomyelination
  • metabolic disorder with severe encephalopathy, seizures and poor neurological outcome (PMID: 21445611))
  • fumarase activity deficient in both the mitochondrial and the cytosolic compartments
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    metabolism/organic acid
    Type disease
    Gene product
    Name fumarate hydratase (FH)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function H275Y
    Remark(s) allelic with hereditary multiple cutaneous and uterine leiomyomatas and hereditary leiomyomatosis and renal cell cancer