Friedreich's ataxia laboratory findings

Template:Friedrich's ataxia

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]

Overview

Some patients with Friedreich's ataxia may have an abnormal laboratory findings such as: Decreased serum ceruloplasmin activity, elevated serum transaminases and LDH, elevated aldolase, decrease in serum and CSF albumins as well as a significant increase in CSF B-globulins, increase in amounts of chylomicrons, low serum cholesterol and beta-lipoproteins and absence of acanthocytosis.

Laboratory Findings

Some patients with Friedreich's ataxia may have an abnormal laboratory findings such as:

• Decreased serum ceruloplasmin activity
• Elevated serum transaminases and LDH
• Elevated aldolase
• Decrease in serum and CSF albumins as well as a significant increase in CSF B-globulins
• Increase in amounts of chylomicrons
• Low serum cholesterol and beta-lipoproteins
• Absence of acanthocytosis