J Korean Acad Rehabil Med.  2000 Aug;24(4):793-798.

Fumarase Deficiency with Spastic Quadriplegia: A case report

• Jung KH
• Park JH
• Ko YJ
• Lee SE

Abstract

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.

Keyword

Fumarase deficiency; Krebs cycle; Spastic quadriplegia

MeSH Terms

Child
Child, Preschool
Citric Acid Cycle
Fumarate Hydratase*
Humans
Metabolism
Mitochondrial Encephalomyopathies
Muscle Hypotonia
Muscle Spasticity*
Quadriplegia*
Fumarate Hydratase