Consanguinity In Egypt Case Study

MS is characterized by the destruction of myelin, inflammation in the CNS and the formation of lesions in the CNS.

The diagnosis of the inherited metabolic disorders is conducted by routine testing and is normally present at childbirth. Although this test is not conducted at childbirth many states are improving there testing systems with use of improved technology. Thus, if the disorder is not detected at birth may go undiagnosed until the symptoms present themselves on the patient, then a blood or DNA test can be conducted to find out what type of disorder it is.

Because of this discovery, techniques to find and diagnose ineffective enzymes were developed. These tests are extremely expensive but very effective as long as the the pinpoint of the exact mutation can be found. Over the years, DNA-based tests have advanced so much that some doctors can detect early symptoms even in the womb. Unfortunately there is not cure for Tay Sachs disease nor a sure way to prevent it, but only ways to make the child more comfortable. Scientists recommend genetic DNA testing early on to determine whether it is genetic within the family or if something has gone wrong within the mother, so that the mother can better prepare for the

Clinical examination and urine test (excess muccopolysaccharides are excreted in the urine) are the first steps in the diagnosis of an MPS disease. Enzymes assays ( testing a variety of cells or blood in culture for enzymes deficiency ) are also used to provide definitive diagnosis of one of the MPS. Prenatal diagnosis using amniocentesis and choroionic villus sampling can verify if the fetus is affected with the disorder. Genetic counseling can help parents who have a family history of the MPS to determined if they are carrying the mutated gene that causes the disorder.

A Phenylketonuria (PKU) test is done on newborn babies to determine if they have the necessary enzyme needed to use Phenylalanine in their body. Phenylalanine is the amino acid needed for normal development and growth.

PKU stands for phenylketonuria and is an amino acid disorder. PKU is defined as an inborn error of metabolism. Specifically, it characterized by the bodies inability to covert phenylalanine to tyrosine. Moreover, PKU occurs due to a phenylalanine hydroxylase deficiency. An infant develops PKU by inheriting it from their parents. Also, it is referred to as an autosomal recessive trait. Moreover, the infants are missing an phenylalanine hydroxylase enzyme. The method that is used to complete the screening is obtaining a blood sample, and then measuring the amount of Phe and Tyr. Also, genetic testing can be done by obtaining a blood sample. The complications that may arise in infants diagnosed with PKU is that the levels of phenylalanine and

In the 20th century, genetic testing was initiated to determine whether an individual had a genetic disorder or not. Newborns were tested for a condition known Phenylketonuria (PKU). PKU is a condition where by a buildup of an amino acid known as phenylalanine in a baby’s body leads to intellectual impairment and possible brain damage. This amino acid is built up when a baby lacks an enzyme that converts phenylalanine into another amino acid called tyrosine. The screening tool used is known as the Guthrie test whereby blood is collected from the heel of a new born and tested for the presence of PKU. If the PKU content is above 1-2mg/dl, then the baby has PKU. Early detection of this condition has helped to preserve the brain function of the child. Also, the child is

The benefit of PKU testing outweighs the potential risk. PKU can have devastating effects if not caught early. It is vital that treatment is initiated within the first 72 hours of life. PKU can be effectively managed if caught in time. The implementation of PKU testing has prevented millions of infants from experiencing the effects of intellectual disability and behavior abnormalities. Individuals with PKU can be successfully managed with monitoring of PKU levels and dietary modifications. The testing is cost effective and has high sensitivity and specificity. The estimated cost associated with the treatment of an individual with mental and intellectual disabilities can be millions of dollars. The population screening of metabolic disorders

This gene is called phenylalanine hydroxylase which helps the changing of phenylalanine into tyrosine in the liver. Here are the basic to understanding the concepts of metabolism, which is a processing compounds from our diet are changed chemically and used by our body to carry out the basic functions of life (Genetics and Louisiana families). With this screening that has been in place since 1960’s it has help to reduce the many causes of mental retardation, the reduction of mortality and many other serious disabilities. Each state has its regulation on Phenylketonuria (PKU) for newborn screening. The screening for this test is as easy as a small prick on the bottom of the baby’s foot and running blood sample test dried on filter-paper called The Guthrie test, also known as the Guthrie bacterial inhibition assay (Bickel et al., 1954). A small disc from the dried blood sample is pre punched in the chromatographic paper, and is placed in a solvent overnight. It is stained with isatin ninhydrin that detect this amino acid (Scriver et al., 1964). There are two advances in testing for genetic disorder, modification of tandem mass spectrometry and DNA extractions and also the dried blood spot. This makes testing on new born almost unlimited (Wilcken, Bridget Feb2008). PKU in not an uncommon disorder like most people may think. It occurs in about 1/10,000 to 1 in 15,000 newborn births (Genetics and Louisiana families). This test is taken between

Achondroplasia can be found during pregnancy with a fetal ultrasound. DNA testing has become more common over the past few years. It is used before birth for parents who have a higher chance at having a child with the homeostatic imbalance. Genetic testing is used when a doctor suspects something wrong. The tests search for the abnormal gene from a sample of amniotic fluid. If no signs of achondroplasia are found during pregnancy, the doctor will check the child’s features by looking at their legs, arms, and head to see if they

Some thirty years later, Canadian pediatrician Robert Guthrie picked up where Følling left off. His motivation came after the births of his son and niece, both who exhibited the cognitive disabilities related to PKU. Guthrie began dedicating his time to reduce the likelihood and severity of this disease through screening tests and dietary programs. Through Guthrie’s hard work and dedication, the deterrence of PKU stretched around the world. His newborn screening processes are still used to this day and through the phenylketonuria model, more inborn disorders have been identified and reduced in many parts of the world. (Williams, Mamotte, & Burnett, 2008)

Criteria that determine “MS” have been revised several times in the last few years (2001, 2005, and 2010) (Polman, 2011). Criteria now enable diagnosis of MS when new MRI lesions define separation in time and space i.e., a new MRI lesion more than 30

This test is not only expensive but is too invasive to be practical as a widespread screening tool. Moreover, the exact test procedure varies between countries and the results are not perfect. While carrying 100% sensitivity, specificity ranges between 80%-97% have been established and the ratio of result reproducibility between laboratories has only been shown to be 0.56-0.77 . Given the clear genetic component of MHS, genetic testing has long held great promise as a potential screening tool that could result in pre-op identification of individuals with MHS. However, there are several barriers to be overcome before genetic testing for MHS can supplant the

Glutaric acidemia type 1 is a type of inborn metabolic disorder which follows an autosomal recessive pattern with an occurrence of 1 in every 100,000 child[4]. Glutaric acidemia type 1 occurs when enzyme called “glutaryl-coA dehydrogenase” is either missing or not working properly. This is due to mutation in a gene which controls the production of or codes for the enzyme glutarylcoA dehydrogenase located on the short arm of chromosome 19P13.2.This enzyme’s job is to break down a substance called glutaryl-coA. Glutaryl-coA is produced when the amino acids lysine, hydroxylysine and tryptophan are processed. During this process it causes glutaric acid and other harmful substances to build up in the blood and cause problems.

Diagnosis of LSDs is an often long and burdensome odyssey [4], which usually includes quantification of macromolecules excreted in urine, enzyme assay with leukocytes (or cultured skin fibroblasts), mutation analysis and symptoms-based judgment. An alternative approach is newborn screening (NBS) program, which shortens the diagnostic process. Early detection by NBS allows for early initiation of disease modifying treatment which is essential for optimal treatment efficacy. However, NBS usually leads to the identification of individuals with low enzyme activity with previously unreported genetic variants of unknown significance [5]. Therefore, decisions on treatment initiation can be complicated in pre-symptomatic patients, and a robust phenotypic prediction is essential.