A Case of Suspected Fumarase Deficiency Presenting with Persistent Mild Metabolic Acidosis in Newborn Infant / 대한소아신경학회지

Fumaric aciduria(fumarase deficiency) is a rare inborn error of metabolism resulted from a deficiency of fumarase, one of the constituent enzymes of the Krebs tricarboxylic acid cycle. Enzyme deficiency causes excessive urinary excretion of fumaric acid due to a defective conversion of fumaric acid to malic acid. It usually presents early in infancy with a severe encephalopathy including hypotonia, developmental retardation and frequent seizures. We report a case of suspected fumarase deficiency presenting with persistent mild metabolic acidosis associated with moderate hydrocephalus in a newborn infant.

Fumarase Deficiency with Spastic Quadriplegia: A case report

Fumarase catalyzes the conversion of fumarate to malate in the Krebs cycle. Fumarase deficiency is a rare inborn error of metabolism and is inherited in an autosomal recessive manner. It causes mitochondrial encephalomyopathy. The symptom is characterized by developmental delay and hypotonia. We report here a case of a 32-month-old child who was initially refered because of spastic quadriplegia, delayed development and poor feeding.