Friedreich's ataxia laboratory findings: Difference between revisions
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==Laboratory Findings== | ==Laboratory Findings== | ||
Some patients with Friedreich's ataxia may have an abnormal laboratory findings such as: | Some patients with Friedreich's ataxia may have an abnormal laboratory findings such as:<ref name="pmid1000421">{{cite journal |vauthors=Butterworth RF, Shapcott D, Melançon S, Breton G, Geoffroy G, Lemieux B, Barbeau A |title=Clinical laboratory findings in Friedreich's ataxia |journal=Can J Neurol Sci |volume=3 |issue=4 |pages=355–9 |date=November 1976 |pmid=1000421 |doi= |url=}}</ref> | ||
* Decreased serum [[Ceruloplasmin|ceruloplasmin activity]] | * Decreased serum [[Ceruloplasmin|ceruloplasmin activity]] | ||
* Elevated [[Transaminases|serum transaminases]] and LDH | * Elevated [[Transaminases|serum transaminases]] and LDH | ||
Latest revision as of 15:07, 25 April 2019
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:[1]
- 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