Fumarase Deficiency with Spastic Quadriplegia: A case report.
- Author:
Kyung Heui JUNG
1
;
Joo Hyun PARK
;
Young Jin KO
;
So Eui LEE
Author Information
1. Department of Rehabilitation Medicine, The Catholic University of Korea.
- Publication Type:Case Report
- Keywords:
Fumarase deficiency;
Krebs cycle;
Spastic quadriplegia
- MeSH:
Child;
Child, Preschool;
Citric Acid Cycle;
Fumarate Hydratase*;
Humans;
Metabolism;
Mitochondrial Encephalomyopathies;
Muscle Hypotonia;
Muscle Spasticity*;
Quadriplegia*
- From:Journal of the Korean Academy of Rehabilitation Medicine
2000;24(4):793-798
- CountryRepublic of Korea
- Language:Korean
-
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.
