Classical hemocystinuria in two Filipino patients
Acta Medica Philippina
;
: 81-83, 2011.
Artigo
em Inglês
| WPRIM
| ID: wpr-631858
ABSTRACT
Classical hemocystinuria is an inborn error of metabolism caused by a deficiency of cystathionine beta-synthase that converts hemocysteine to cystathionine. This then leads to elevation of hemocysteine which results in abnormalities of the eyes, skeleton, central nervous system and vascular hemocystinuria. Patient 1 presented with lens dislocation and mental retardation while Patient 2 presented with thromboembolism, mental retardation and lens dislocation. The elevated plasma hemocysteine and methionine levels lead to the diagnosis of hemocystinuria.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cistationina
/
Cistationina beta-Sintase
/
Deficiência Intelectual
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Acta Medica Philippina
Ano de publicação:
2011
Tipo de documento:
Artigo
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