Classical hemocystinuria in two Filipino patients
Acta Medica Philippina
;
: 81-83, 2011.
Article
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Cystathionine
/
Cystathionine beta-Synthase
/
Intellectual Disability
Limits:
Child
/
Humans
/
Male
Language:
English
Journal:
Acta Medica Philippina
Year:
2011
Type:
Article
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