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.
Artigo
em Inglês
| 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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Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Convulsões
Idioma:
Inglês
Revista:
Acta Medica Philippina
Ano de publicação:
2017
Tipo de documento:
Artigo
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