The role of the Clinical Biochemistry laboratory in the diagnosis of HOMOCYSTINURIA
(pyridoxine unresponsive) (HCU)
1. An accompanying commentary in the notes pane of approximately 3000 words, without considering References.
• 3000 ± 300 words annotated slides).
– Introduction to the disease (Include symptoms and signs, biochemistry supporting the pathophysiology)
– Genetic background (e.g. mutations)
– Clinical Tests available (e.g. metabolite, enzyme, gene mapping/sequence, include description of methodology)