Inborn errors of metabolism

Introduction Pompe Disease is also referred to as GAA Deficiency, Glycogenesis Type II, and Glycogen Storage Disease Type II. It is a lysosomal storage disorder that must be passed down by both parents due to the fact that it is a recessive mutation in genes (Type II, 2014). As a lysosomal disorder, Pompe Disease is the inability of lysosomes to breakdown glycogen into glucose and causes the glycogen to build up inside the lysosome (Pompe, 2010). The glycogen build up has specific effects on the muscles of the body I chose Pompe Disease because of its effects on the muscular system. Also, I feel that, because of its specific effects directly on the lysosomes of cells causing it to be a rare disorder, it does not receive enough attention. Pompe Disease is a rare disorder because overall it affects only about one in every forty thousand people in the United States (Cupler, 2011). Anatomy and Physiology Pompe Disease is a lysosomal storage disorder, meaning that the lysosomes in a cell are effected and either completely missing the Acid Alpha-Glycosidase (GAA) enzyme or produces very little of it. The Acid Alpha-Glycosidase enzyme gene has been pinpointed to the 17th chromosome at the position of q25.2-25.3(Zampieri, 2011). GAA is an enzyme present in the lysosome of cells for the purpose of breaking down glycogen into the usable product of glucose (Manganelli, 2013). The lack of or absence GAA causes glycogen to build up in the lysosomes of the cell until it can no…

Alkaptonuria is a metabolic disorder which can be identified by the accumulation of hemogenetistic acid in the body. This leads to dark urine, pigmentation of connective tissues, arthritis in the spine and joints, and the destruction of the cardiac valves. Scientist 1: Sir Archibald Edward Garrod (1857-1936) Sir Archibald Edward Garrod, born on November 25 1857 from London, United Kingdom. He was an English physician who explored the field of inborn errors of metabolism. When Garrod was…

Abstract Tafazzin, encoded by the TAZ gene, is a mitochondrial membrane-associated protein that remodels cardiolipin (CL), an important mitochondrial phospholipid. CL is essential for proper mitochondrial structure and function, ensuring proper functioning of energy production and apoptosis. TAZ mutations are associated with the X-linked metabolic disorder, Barth syndrome (BTHS). BTHS is a lipid metabolic disorder that affects mitochondria that is often fatal in infancy and early childhood, due…

Hereditary fructose intolerance is a serious mutation that many people suffer from. The first paragraph will be stating a description of the disease, major causes of this mutation and the symptoms of this disorder. The second paragraph states the tests used to diagnose this disorder, how the disorder is treated and other contributors to this disorder. The third and final paragraph will be stating how exactly it is to live with this disease, how often this disorder occurs and whether this…

However, in this case, bruising is unlikely in view of a congenital onset, chronicity of the lesion and appearance. Choice "B" is not the best answer. Diaper rash is a form of chemical contact dermatitis, which results from prolonged contact of the skin with wet diapers. This makes the skin more susceptible to physical, chemical and enzymatic damage, and also to superimposed fungal infections especially from Candida albicans. It often presents as a multiform erythematous rash in the diaper…

Madhavi Ramnath Genetics and Genomics Maple Syrup Urine Disease Maple syrup urine disease (MSUD), first characterized by John Menkes in 1954, is an inborn error of metabolism involving the catabolic pathway of the branched‐chain amino acids, where there is difficulty in breaking down certain parts of the protein (leucine, isoleucine, and valine). This leads to a buildup of chemicals in the blood and the build up of ketoacids, which give rise to the ‘maple syrup’ or burnt sugar smell in the…

Glucose-1 (GLUT-1) deficiency syndrome is an inborn error of metabolism caused by a mutation of the SLC2A1 gene (1). The resulting dysfunctional GLUT-1 protein causes inadequate amounts of glucose to be transported to the brain and results in neurologic disorders such as childhood intractable epilepsy (1). Although introduced nearly a century ago, the ketogenic diet has gained increasing popularity within the last decade to treat epileptic seizures, especially when minimal or no improvement is…

Phenylketonuria is an autosomal recessive disorder and a common metabolic cause of mental retardation. This inborn error of metabolism is characterized by a deficiency in phenylalanine (Phe) hydroxylase activity, due to mutations in the Phe hydroxylase (PAH) gene. Phenylalanine hydroxylase is responsible for converting Phe to Tyr and requires the cofactor tetrahydrobiopterin (BH4), molecular oxygen, and iron for its action (Blau et al., 2010). The reductant, BH4 is maintained in the reduced…

Introduction The ferric chloride test is used to determine the presence of phenols in a given sample or compound (for instance natural phenols in a plant extract). Enols, hydroxamic acids, oximes, and sulfinic acids give positive results as well. The ferric chloride test can be used to detect metabolites in urine in case of inborn error of metabolism such as phenylketonuria. In addition,the Ferric Chloride test can be used to detect salicylates in urine after an aspirin overdose.1 Background…

inflammatory arthopathy in men older than 40 years (Bolognia, First Consult). Gout is a deposition disease of metabolic origin caused by supersaturation of monosodium urate, or hyperuricemia. Needle-like crystals are deposited into joints, connective tissue, and the kidneys. This deposition may lead to various clinical sequelae such as arthritis, tophi, and acute kidney injury (Bolognia). Gout can transition through many phases including asymptomatic, acute, and chronic disease (3).…