Fumarase Deficiency with Spastic Quadriplegia: A case report
Journal of the Korean Academy of Rehabilitation Medicine
;
: 793-798, 2000.
Article
in Korean
| WPRIM
| ID: wpr-723545
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Quadriplegia
/
Citric Acid Cycle
/
Mitochondrial Encephalomyopathies
/
Fumarate Hydratase
/
Metabolism
/
Muscle Hypotonia
/
Muscle Spasticity
Limits:
Child
/
Child, preschool
/
Humans
Language:
Korean
Journal:
Journal of the Korean Academy of Rehabilitation Medicine
Year:
2000
Type:
Article
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