Classical hemocystinuria in two Filipino patients
- Author:
Abacan Mary Ann R
;
Casis Roxanne J
;
Capistrano-Estrada Sylvia
;
Chiong Mary Anne D
- Publication Type:Case Reports
- MeSH:
Human;
Male;
Child;
CYSTATHIONINE;
CYSTATHIONINE BETA-SYNTHASE;
INTELLECTUAL DISABILITY
- From:
Acta Medica Philippina
2011;45(4):81-83
- CountryPhilippines
- Language:English
-
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.
