lacking bile acid named chenodoeoxycholic acid. As
chenodoeoxycholic acid is replaced, patients may
go on to their lives with almost no disturbance.
Early treatment provides an ease on the effects
of the sickness. If the treatment starts at an early
stage, xanthomas do not get so harsh and life
quality of the patient increases (Cerebrotendinous
Xanthomatosis, 2014).
It can be figured out early diagnosis is a key point
for Cerebrotendinous xanthomatosis, as it can help
to start CDCA treatment earlier. Early diagnosis may
not be able to prevent the disease as it is an onset
genetic condition, but it helps on increasing the life
standards of the patient even during the disease in
their adulthood.
There are even some infant signs to this condition
such as diarrhea (Cerebrtendinous Xanthomatosis
(CTX), n.p). The blood and urine tests are not painful
for the patient, so there is no harm that they are
conducted. If the tests give rise to any chance of
having Cerebrotendinous xanthomatosis, genetical
tests give 100% accurate results and this helps on
the medical path of the patient.
According to the statement of American Society of
Human Genetics, children should be avoided on such
testing. This would cause a needless damage on the
patient in case of Cerebrotendinous xanthomatosis
(Bethesda, n.a.).
This is not a painful process. Even if it was, early
diagnosis would contribute to treatment so
massively that it would be worth it. Also, testing
gives no rise to mislead. Therefore, no unnecessary
pain is taken. Children and the parents should be
encouraged to have the test on early ages, too.
There are no physical harm on the children, and any
physiological damage can be prevented by raising
awareness that Cerebrotendinous xanthomatosis
is not incurable. Even in some cases, professional
psychologists may help on the acceptance of the
situation, so that treatment process can be done
easier with the higher motivation of the patient.
Bibliography:
Bethesda. (n.a.). ASHG Issues Position Statement on
Genetic Testing in Children and Adolescents. Retrieved
from American Society of Human Genetics: http://www.
ashg.org/press/201507-pediatric-testing.html
Cerebrotendinous Xanthomatosis. (2014). Retrieved
from National Organisaton for Rare Disorders: http://
rarediseases.org/rare-diseases/cerebrotendinousxanthomatosis/
Cerebrtendinous Xanthomatosis (CTX). (n.p, n.p n.p).
Retrieved March 09, 2016, from United Leukodystrophy
Foundation: http://ulf.org/cerebrtendinousxanthomatosis-ctx
Christie, W. (2013, August 26). The American Oil
Chemists’ Society. Retrieved from Bile Acids and
Alcohols: http://lipidlibrary.aocs.org/Primer/content.
cfm?ItemNumber=39298
Federico, A. (2013). Late onset neurometabolic diseases.
Retrieved from https://www2.kenes.com/wcn/scientific/
Documents/TC32_Federico_Hall%20L_Tue_UPDT%20
[Read-Only]%20[Compatibility%20Mode].pdf
Federico, A., & Dotti, M. T. (n.a.). What is CTX -
Information about Cerebrotendinous Xanthomatosis.
Retrieved March 09, 2016, from CTXInfo: http://ctxinfo.
org/WhatIsCTX.htm
Gökçen Nilay NAKTİYOK
10-A
THE CLAPPER 2015 - 2016 63
BIOLOGY
DEPARTMENT