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- Title
HOMOCYSTINURIA : CHALLENGES IN EARLY DIAGNOSIS, MANAGEMENT AND OUTCOME.
- Authors
Ahmed, Ikhlas Ali; Baqer, Rabab Hassan; Kadhim, Riyadh Mohammed; Hommadi, Sawsan Abdulwahab
- Abstract
Homocystinuria is a neurometabolic diseases characterized by symptoms include, Neurodevelopment delay, lens dislocation, skeletal abnormalities (resembling those of Marfan syndrome) and thromboembolic episodes. A descriptive study was performed on ten patients, who were diagnosed as homocystinuria in the metabolic clinic of the central child teaching hospital, Iraq, Baghdad, to study the age and mode of presentation, signs and symptoms, homocysteine level, neuroimaging findings and the outcome of these patient safter starting treatment. we conclude that almost all patients were presented with mental retardation, lens dislocation and skeletal deformities, with about 4.5 years lagging between diagnosis and presentation. So we suggest that early assessment and detection play an important role in the prevention of disease progression, and better outcome.
- Subjects
HOMOCYSTINURIA; EARLY diagnosis; HOMOCYSTEINE; METHIONINE; CYSTATHIONINE beta-synthase
- Publication
Biochemical & Cellular Archives, 2021, Vol 21, Issue 1, p1311
- ISSN
0972-5075
- Publication type
Article