fumaric aciduria
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
FMRD
related
fumarase deficiency
exact
fumarate hydratase deficiency
related
fumaric aciduria
exact
SPCC18.18c