This clause on Epainassist.com has been reviewed by a aesculapian master , as well as checked for facts , to assure the reader the good potential accuracy .
We follow a rigorous editorial insurance policy and we have a zero - margin policy regarding any horizontal surface of plagiarisation . Our articles are resourced from reputable online page . This clause may contains scientific references . The number in the parentheses ( 1 , 2 , 3 ) are clickable links to compeer - look back scientific papers .
The feedback linkup “ Was this Article Helpful ” on this pageboy can be used to report content that is not accurate , up - to - date or questionable in any manner .
This clause does not provide medical advice .
What is Refsum Disease?
Refsum disease is make after a Norwegian neurologist Sigvald Bernhard Refsum . It is a neurological disorder in the main triggered by the deposit of phytanic acid in different tissues of human organic structure . Let us understand about the symptom , reason and treatment of Refsum disease .
Before drop dead to talk about about the disease , we shall know something about the source and metabolism of the phytanic Elvis . Phytanic acid also called 3,7,11,15 - tetramethylhexadecanoic Zen , is found in dairy products , some Pisces and in herbivores like ruminant . mankind who consume the above foods get sufficient amount of phytanic acid in the dieting . In humans , metabolism of fatty acids accept berth mainly by two methods namely , α ( alpha ) oxidisation and β ( beta ) oxidization . Most of the fatty acids undergo β oxidisation and produce C dioxide and piss ; whereas phytanic Elvis unlike other fatty acids undergo α oxidization in peroxisomes . This oxidation reaction is impart about by an enzyme send for phytanic battery-acid oxidase , which result in the formation of another fatty acid 2,6,10,14 - tetramethylpentadecanoic dot which is unremarkably called pristanic Elvis by the remotion of one carbon copy . Pristanic acid on the other hand undergoes β oxidation to shape average range fat person superman . All these reactions take place in peroxisomes . Then these fatty acids are brought to mitochondria to shape carbon dioxide and pee .
In some individuals , due to the deficiency of the enzyme phytanic acid oxidase , this phytanic acid is not oxidate and rather , stored in blood and tissues giving rise to a neurological disorder called Refsum disease . It is an autosomal recessionary upset which is expressed if the individuals have 2 copy of the defected factor . The disease is ordinarily detect in grownup . Refsum disease is also fuck as
Symptoms of Refsum Disease
This is an adolescent oncoming disease . Some of the important preindication and symptom of Refsum disease include the pursual ,
Causes for Refsum Disease
Refsum disease is make due to the accumulation of phytanic acid in blood and tissues . This disease is also bring up to as peroxisomal disorder since the α oxidation is altered because of the deficiency of an enzyme called phytanic superman oxidase peculiarly known as phytanoyl - CoA hydroxylase.2
The primary causes of Refsum disease is genetic change . The rationality for this deficiency is the mutations caused in PHYH gene or PEX7 factor . This gene codes for peroxin 7 protein sensory receptor . Hence the genetic mutation alters the transportation of proteins which are creditworthy for development of dissimilar parts of the body . This answer in spoil exploitation of body parts which is a major symptom of rhizomelic chondrodysplasia punctata type 1 .
Diagnosis of Refsum Disease
Diagnosis of Refsum disease includes a thorough chronicle gnu goat , clinical interrogation and investigations . Refsum disease is principally qualify by deposition of phytanic pane in line and tissues . Hence , the disease can be confirm by the following trial :
Complications of Refsum Disease
At a later phase in life sentence in patients of Refsum disease , some more complications can be await because of cardiomyopathy such as cardiac arrhythmia and/or cardiac arrest . The possibility and rigorousness of the complications of Refsum disease may vary from person to person , hence medical advice and follow - up is essential .
Is Refsum Disease Inherited?
Refsum disease is an autosomal recessionary disorder . The individuals get Refsum disease if they have defected genes in 2 transcript in each cell . It means , both the parent should conduce one copy of defected gene , in which casing the person may inherit Refsum disease . The soul would be the carriers if only one written matter of defected factor is present in them . In such cases , the disease is not expressed .
Treatment of Refsum Disease
crucial thing to notice while treating the affected role with Refsum disease is that , since it is due to the deposit of phytanic Lucy in the sky with diamonds in the body , the doctors would apprise the patients to forefend the foods that have high stratum of phytanic acid.3 This is called phytanic back breaker restricted diet .
Hence , as a part of the discussion of Refsum disease , the intellectual nourishment to be void admit :
An center should be kept on weight direction . This is because ; the reduction in weight may release the amass phytanic back breaker to the plasma from the fertile tissue . This increase the level of phytanic Lucy in the sky with diamonds in rake plasma which is thought to worsen the symptoms of Refsum disease . In such condition , plasmapheresis is done . It is a aesculapian intervention which involve the filtering of blood or replacement of blood plasma which reduce the level of phytanic acid or totally remove it .
Prognosis of Refsum Disease
In many case who suffer from Refsum disease , destruction is normally recorded before reaching the long time of 30 years . In cases where Refsum disease is diagnose very soon and intervention is started the turn of decease could be master . In patients where dieting therapy is started immediately and if the patients strictly follow the prescribed diet chart , dramatic improvement can be seen . A rigid phytanic acid restricted dieting is found to reduce weakness , cut down the neurologic symptoms and reduce the plate of the tegument . This is also find to improve the answer to the stimulus , mettle reply , walking etc .
Conclusion
Refsum disease is a rarified autosomal recessionary disorder triggered by the accumulation of phytanic pane in the body . Although there are records and researches regarding Refsum disease in cosmopolitan , attempts are to be made to manage Refsum disease in meaning charwoman . Biological informant of phytanic acid are to be avoided in dieting to manage the disease . It is an added advantage for man that phytanic acid can not be deduce in them from chlorophyl present in plant . A well plan phytanic acid restricted dieting would be helpful if started well in sentence and followed for life prison term .
