L-2-Hydroxyglutaric Aciduria - A rare type of organic Aciduria presenting as seizures and developmental delay in a Filipino child
Acta Medica Philippina
;
: 259-262, 2017.
Article
in English
| WPRIM
| ID: wpr-997786
ABSTRACT
@#L-2-hydroxyglutaric aciduria (L-2-HGA) is a rare, autosomal recessive organic aciduria with increased levels of L-2hydroxyglutaric acid in the urine and other body fluids. Clinical presentation includes developmental delay, epilepsy, and typical neuroimaging findings. This is a report of the clinical, neuroimaging, and biochemical findings of the first diagnosed case of L-2-hydroxyglutaric aciduria in the Philippines. This paper likewise reaffirms the importance of locally available biochemical tests in diagnosing inborn error of metabolism.
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Index:
WPRIM (Western Pacific)
Main subject:
Seizures
Language:
English
Journal:
Acta Medica Philippina
Year:
2017
Type:
Article
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