J Korean Acad Rehabil Med.
2000 Aug;24(4):793-798.
Fumarase Deficiency with Spastic Quadriplegia: A case report
- Affiliations
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- 1Department of Rehabilitation Medicine, The Catholic University of Korea.
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.
