Barth syndrome ( BTHS ) is a rare X - linked inherited upset . It was discovered for the first time in 1979 by Dr. Peter Barth in Netherlands and hence , named after him .
What is Barth Syndrome?
Barth syndrome is an XTC - linked serious genetic disorder , which is inherit in a recessive style . It is see to it only in case of males and not in case of female . Barth syndrome is characterized by a triad of symptom such ascardiomyopathy , skeletal myopathy and neutropenia . Barth syndrome was report to be a effort of virile foetal decease due to abortion and stillbirth .
In Barth syndrome , there is a problem with lipid metamorphosis , particularly the cardiolipin metabolism . Cardiolipin is a phospholipid establish mainly in mitochondria . The manly children who are born live show a number of body defects from foetal to adult point .
In addition , there are a routine of biochemical fault take note as reduced levels of pre - albumin and LDL cholesterol , elevated levels of enzyme creatine kinase and transaminase . There is lactic acidosis , hypoglycaemia and mild hyperammonemia . These spark advance to metabolic decompensation and death in neonates .
Symptoms of Barth Syndrome
Barth syndrome shows symptoms such as :
Epidemiology of Barth Syndrome
Barth syndrome is a rare disorder , which occurs only in face of Male ; however , this upset may be underestimated . Today , due to increase consciousness , more numeral of cases is being describe . It has an incidence of 1 in 300,000 to 1 in 400,000 lively births . Barth syndrome take place in all races and ethnic populations .
Prognosis of Barth Syndrome
Most male fetuses become flat during neonatal stage or infancy due to heart job or an increase infection . Hence , early diagnosis is significant . Once discover , they can be given improved supportive tutelage system , which will increase the aliveness span of baby with Barth syndrome . One of the subject area report that patient with Barth syndrome was alert at age 53 years .
Causes of Barth Syndrome
Barth syndrome is a genetic upset . It is inherit by the virile foetus from the letter carrier mother ; while the female fetuses are mailman . When an grownup male person has Barth syndrome , none of the sons are affect .
Pathophysiology of Barth Syndrome
There is a familial mar or mutation of gene Tafazzin ( TAZ ) present on the X - chromosome at location Xq28 . This gene contains 10 exon and encodes an enzyme acyltransferase , which is need in cardiolipin organisation . Cardiolipin is a special type of phospholipid discover in the membrane of chondriosome associated with number of mitochondrial protein and mitochondrial apoptosis . It is an important lipide component of the Electron Transport Chain ( ETC ) and help in energy shaping .
TAZ cistron undergoes a number of variation such as folderal , missense , frameshift , deletion and splicing , which give rise to a defective acyltransferase enzyme . bad enzyme can not make appropriate type of cardiolipin lipid . This give way rise to varying degrees of structural and usable abnormalities in the mitochondria . For example , the defective mitochondria found in warmness and skeletal muscle are very large in size of it and can not function fittingly , which give rise to serious cardiac and haggard defects .
Barth syndrome is seen only in display case of Male and not female since males carry only one X - chromosome while females carry two X - chromosomes . Although , a defective TAZ cistron is carried on one X - chromosome , the presence of normal factor on other chromosome dominates over the recessionary variation and thus , does not exhibit the syndrome .
Diagnosis of Barth Syndrome
Since it is a nonspecific test , hence further diagnosing is done using Cardiolipin and transmissible examination which include :
Treatment of Barth Syndrome
Till date , there is no specific cure for Barth syndrome . All Barth syndrome patient role do not exhibit all the symptom at a time . The common 1 such as heart problems , infections and nutrition trouble are treated .
Prevention of Barth Syndrome
Overall , Barth syndrome can not be keep since it is transmitted in origination . However , if it is diagnosed too soon , then the symptoms can be managed by administration of certain drugs and by intellectual nourishment supplement which will lead to improved biography couplet . Moreover , if the chronicle of the syndrome in the family is already bang , then diagnostic trial run or familial tests must be when daughters of the family is fraught to rule out the chances of the disorder in the fetus .
Barth syndrome is a rare disco biscuit - linked hereditary disorderliness . Today due to ameliorate nosology one can discover this upset in the idiopathic case too , which display unexplained heart problems and sudden last . other recognition allow proper kinsperson screening and patient counseling , which help oneself in proper disease management and scale down early fatality rate .
