Fumarase deficiency is a very rare inborn error of metabolism caused by decreased activity of fumarate hydratase enzyme. We describe a fumarase-deficient infant who presented with encephalopathy, metabolic crisis, psychomotor retardation, hypotonia, seizures, and facial dysmorphism. To our knowledge, this is the first Indian child to be described with fumarase deficiency.
EstevezMSkardaJSpencerJ. X-ray crystallographic and kinetic correlation of a clinically observed human fumarase mutation. Protein Sci. 2002;11:1552–1557.
2.
AllegriGFernandesMJScalcoFB. Fumaric aciduria: an overview and the first Brazilian case report. J Inherit Metab Dis. 2010;33:411–419.
3.
WalkerVMillsGAHallMA. A fourth case of fumarase deficiency. J Inherit Metab Dis. 1989;12:331–332.
4.
BurtonBK. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics. 1998;102:E69.
5.
ZinnABKerrDSHoppelCL. Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. N Engl J Med. 1986;315:469–475.
6.
Petrova-BenedictRRobinsonBHStaceyTE. Deficient fumarase activity in an infant with fumaricacidemia and its distribution between the different forms of the enzyme seen on isoelectric focusing. Am J Hum Genet. 1987;40:257–266.
7.
GelleraCUzielGRimoldiM. Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes. Neurology. 1990;40:495–499.
