fumaric aciduria
FMRD
related
fumarase deficiency
exact
fumarate hydratase deficiency
related
fumaric aciduria
exact
Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment.
MONDO:0004069
inborn mitochondrial metabolism disorder
is_a
MONDO:0016790
tricarboxylic acid cycle disorder
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
SPCC18.18c