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Journal of the Korean Academy of Rehabilitation Medicine 2000;24(4):793-798.
Fumarase Deficiency with Spastic Quadriplegia: A case report.
Jung, Kyung Heui , Park, Joo Hyun , Ko, Young Jin , Lee, So Eui
Department of Rehabilitation Medicine, The Catholic University of Korea.
경직성 사지마비를 보인 Fumarase 결핍 질환 1예 ⁣증례 보고⁣
정경희, 박주현, 고영진, 이소의
가톨릭대학교 의과대학 재활의학교실
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.

Key Words: Fumarase deficiency, Krebs cycle, Spastic quadriplegia


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