Treatment of disorders arising from genetic mutation

Abstract

A method and composition for the treatment of disorders resulting from mutations in one or more genes. The composition includes L-Carnitine tartrate, pyridoxal-5′-phosphate, pyridoxine (Vitamin-B6), and fumaric acid.

What is claimed is: 
     
         1 . A method for treating a disorder resulting from mutations in one or more genes, the method comprising the step of orally administering a composition consisting essentially of:
 L-Carnitine tartrate;   pyridoxal-5′-phosphate;   pyridoxine; and   fumaric acid.   
     
     
         2 . The method according to  claim 1 , wherein the ingredients of the composition are present in a range of about:
 L-Carnitine tartrate—34-90%,   pyridoxal-5′-phosphate—5-33%,   pyridoxine—5-33%, and   fumaric acid 0.5-33%.   
     
     
         3 . The method according to  claim 1 , wherein the composition is present in a form of solid dosage form selected from a group consisting of tablets and capsules. 
     
     
         4 . The method according to  claim 1 , wherein the composition is present in a form of liquid dosage. 
     
     
         5 . The method according to  claim 1 , wherein the one or more genes are selected from a group consisting of APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, DICER1, EPCAM, FH, GREM1, HOXB13, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, POLE, PPM1D, PTCH1, PTEN, RAD51C, RAD51D, SMAD4, STK11, and TP53. 
     
     
         6 . The method according to  claim 1 , wherein the composition is administered in a dose of about 1,000 mg per day. 
     
     
         7 . The method according to  claim 6 , wherein the method further comprises the step of:
 upon administering the composition, determining a functionality of the one or more genes after predetermined duration; and   administering a predetermined dose of the composition daily till the functionality of the one or more genes is in a range of about 93-100 percent.   
     
     
         8 . The method according to  claim 7 , wherein the functionality of the one or more genes is determined by polymerase chain reaction (PCR) test. 
     
     
         9 . The method according to  claim 1 , wherein the disorder is selected from a group consisting of Antiphospholipid Syndrome, disseminate intravascular coagulation (DIC), familial adenomatous polyposis, familial adenomatous polyposis, Neurofibromatosis Type 1, alopecia areata, deafness, coloboma, Nonsyndromic holoprosencephaly, Gorlin Syndrome, autism spectrum disorder, Cowden Syndrome, Bannayan-Riley-Ruvalcaba Syndrome, hereditary hemorrhagic telangiectasia, Myhre Syndrome, Juvenile and Adult Polyposis Syndrome, Tietze Syndrome, Waardenburg Syndrome, Fancomi anemia, Blepharocheilodontic (BCD) Syndrome, Lynch Syndrome, congenital tufting enteropathy, and fumarase deficiency.