Glutaric Acidemia Research Paper

• Mutations in the ALDOB gene reduce the function of the enzyme, impairing the ability to metabolize fructose.

Gaucher disease (GD) is an inherited gene that stops glucocerebroside (type of lipid) to be broken down correctly. When this lipid cannot be broken down, buildups appear in the liver, spleen, and bone marrow which affects normal functioning. These organs begin to grow to an irregular size, amenia becomes present within the patient, and easy bruising appears due to the decrease in blood platelets. Gaucher disease is created during an autosomal recessive pattern, which means that two genes have a mutation, which causes the disorder. Normally, if a child is born with this disease, both parents carry one copy of the mutated gene. The gene that the mutation appears in is the GBA gene. GBA is located in chromosome one. The GBA gene is in charge of creating the instructions for producing an enzyme called beta-glucocerebrosidase. This enzyme breaks down the glucocerebroside into glucose and ceramide (a simpler fat molecule). When mutations appear in the GBA gene, the activity of the beta-glucocerebrosidase is reduced abundantly. Without this important breaking down of the

An analysis of fifty-seven patients with GLUT1 deficiency syndrome was conducted by Leen and associates and seventeen different missense mutations of SLC2A1 were discovered. Of the seventeen mutations, a single nucleotide of adenine in the third helix domain of the SLC2A1 gene was substituted with a guanine. This missense mutation found on the 286th base pair caused the codon to generate the amino acid valine rather than methionine as seen on figure 2. This single missense mutation caused the classic phenotype expression of epilepsy in patient three, an 8-year-old female child. Two other patients in the study had a mutation in the third helix in the transmembrane portion of the protein, however their SLC2A1 gene contained a deletion rather than a missense

Gaucher disease is an abnormality fat of storage. It is an increasingly genetic and very rare disorder that is most common in family members. The people who suffer the most, have consequences in the lack of of levels of a certain enzyme in the body. Because of this, a fatty lipid spreads throughout one’s human body. This disease is also known to be called lysosomal storage disorder. This type of disorder can cause symptoms to happen at any time of your life, whether it is childhood or adulthood. How can you get this disease? You can get it from parents who struggle with the cells in their body. “The enzyme that is not working well in Gaucher disease is called glucocerebrosidase. This enzyme helps the body break down glucocerebroside, a fatty

Phosphorylase Deficiency is a rare inherited disease where the body is not able to break down glycogen in muscle cells. Glycogen is an important source of energy that is stored in all tissues, especially in the muscles and liver. It is also known as McArdle’s disease. People who get this disease experience fatigue and failure during activities such as jogging, swimming or even walking. It is first present in a person's teens or twenties, but they can appear anytime from infancy to adulthood and experience some symptoms. It is usually diagnosed in adulthood. The National Organization for Rare Disorders states, “The prevalence of GSD-V in the Dallas-Fort Worth, TX area has been estimated at 1:100,000 and the prevalence in Spain has been reported at 1:170,000” (NORD). The condition is caused by a recessive gene. This means that one abnormal copy of the gene is passed from each parent to the affected child. The child will then have inherited two abnormal copies of the gene. People who have

This paper is to inform you on the disease Acid Maltase Deficiency. This is a disease that affects a small amount of people but can be very deadly if it is not treated or taken care of. It affects a person’s enzyme and makes them, and their muscles, weak. Acid Maltase Deficiency affects a small number of people, but it can happen to anyone. We need to do more research on this so we can figure out why exactly this happens.

NGLY1 deficiency is a rare genetic disorder that was first discovered in 2012 and has been diagnosed in less than 100 individuals worldwide. This disease is caused by a lack of the enzyme N-glycanase 1, which helps break down defective proteins, explained by Clement Y. Chow, PhD, Assistant Professor in the Department of Human Genetics at the University of Utah. People with this disease tend to experience global developmental delays, seizures, difficulty with movement, problems with liver function, and the difficulty to produce tears. The symptoms of this disease can vary since not all the information has been gathered about NGLY1 deficiency.

Glucose-6-phosphate dehydrogenase deficiency was discussed in the book and I wanted to research more about the prognosis and treatment. The deficiency is caused by a mutation in the G6PD gene. This disease is inherited from the X chromosome and passed on either from one or both parents. The enzyme, Glucose-6-phosphate dehydrogenase, is produced by the gene and is one of the many enzymes that takes part in the breakdown of carbohydrate. However, it is also known for its protective role in red blood cells against reactive oxygen species. The enzyme prevents the accumulation of reactive oxygen species within the red blood cells. Therefore, the mutation of the G6PD gene causes either a decrease in concentration or structural modification of the

Gaucher’s Disease is an inherited disease of lipid metabolism caused by the failure to produce the enzyme glucocerebrosidase. It is the most common of the fourteen known lipid storage disorders which includes Tay-Sachs Disease, Fabry’s Disease, and Niemann-Pick Disease. There are three types of Gaucher’s Disease – Type I, II, and III. All three are characterized by the presence of Gaucher (lipid-laden) cells in the bone marrow and other organs such as the spleen and liver.

In Conclusion, in this case study the researchers were given a case study which expressed a student named ‘Jane’ who has an autosomal recessive disorder called Phenylkentonuria (PKU). The researchers learned that PKU is a caused by a gene mutation on chromosome 12. It codes for an enzyme in the liver called phenylalanine hydroxylase. This gene does not process phenylalanine correctly therefore, to avoid a build up phenylalanine a specific diet that contains less phenylalanine is given to people with Phenylkentonuria (Mayo Clinic, 2014). Since Jane has PKU that means that both her parents passed on the mutated gene to her. Parents can have the mutated gene and still not have PKU which makes them a carrier. On the other hand, if a single parent

(13) Offspring of low protein post-natal diets had livers with larger but fewer lobules, which is though to have a significant effect on the functioning of the liver such as impaired protein production commonly observed with type 2

Gaucher’s disease which is also identified as glucocererbrosidase deficiency, this happens when the lipid, glucosylceramide, builds up in bone marrow, lungs, spleen, liver and sometimes the brain. It’s a hereditary disease. When the lipid as mentioned earlier is faulty glucosylceramide accumulates more commonly in the microphages which is a type of white blood cell.

Phenylketonuria (PKU) is an error of the metabolism discovered in 1934 by Ivar Asbjørn Følling. Phenylketonuria leads to a decreased metabolism of the amino acid phenylalanine. Phenylketonuria is a genetic disorder inherited from the parents, and both parents must have this enzyme deficiency in order for the child to be affected. Mutations in the PAH gene result in PKU, this results in low levels of the enzyme phenylalanine hydroxylase. If low levels of phenylalanine hydroxylase are produced then there is a buildup of dietary phenylalanine, which are toxic and harmful if not broken down. A rise in phenylalanine can lead to many intellectual disabilities as well as other health problems. There are two main types, the basic one is PKU(which

Abetalipoproteinemia (ABL) is a rare inherited disorder affecting fat metabolism. Abnormal fat metabolism prevents the body from completely absorbing dietary fats, cholesterol, and fat-soluble vitamins. Without treatment, people affected by this disorder can experience progressive neurological deterioration, muscle weakness, difficulty walking, and blood abnormalities in which the red blood cells deform resulting in low levels of circulating red blood cells (anemia). Dietary fats and vitamins are essential for proper growth and development of various body systems. Consequently, degeneration of the retina of the eyes may also occur in affected people. This can potentially result in loss of vision, a condition known as retinitis pigmentosa.

Fabry is a metabolic disease caused by a mutation in the GLA gene on the X chromosome and mostly only affects males, though female carriers can be affected (“Fabry Disease”). There are also rare cases of homozygous females. Mutations in the GLA gene causes misfolding in the protein, α-galactosidase A, which reduces its ability to act as an enzyme (“Fabry Disease”). The most common mutation is a change in a single amino acid in the protein sequence, which affects the interactions between different parts of the primary sequence and changes the overall folding. With reduced enzymatic activity, globotriaosylceramide does not get broken-down in the lysosomes and builds-up in cells and the blood stream (“Fabry Disease”). Cells shown to be affected include endothelial cells (cells lining the inside of blood vessels), epithelial cells, muscle cells, and ganglion cells (nerve cell clusters) (Mandava). Fabry Disease tends to affect 1 in every 40,000-60,000 males, and much fewer females (Desnick). Most males with classic Fabry show signs of onset in early childhood and adolescence. Initial symptoms are acroparesthesias (severe episodes of pain in the extremities), angiokeratomas (small, red lesions on the skin), hypohidrosis (reduced sweating), and ocular changes, mostly including opacities (Desnick). Proteinuria (excess proteins in the urine) tends to occur in the second decade of life, renal failure develops by third decade, and heart disease and risk of