PPL 10. Inborn errors of metabolism.
Amino acid can be classified into essential and non-essential. Non-essential can be synthesized from metabolic precursors, whereas essential cannot and must be taken from the diet. Essential are the ones that have more steps in the production process, so they required more ATP. Essential amino acid includes phenylalanine, valine, threonine, tryptophan, methionine, leucine, isoleucine, lysine, and histidine. And non-essential amino acids are arginine, alanine, asparagine, aspartate, cysteine, glutamate, glutamine, glycine, proline, serine, and tyrosine. Inborn errors of metabolism are caused by a single gene mutation that lead to a defect in an enzyme or transport protein. As a consequence, a specific metabolic
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Inborn errors of metabolism include phenylketonuria (rise of phenylalanine levels and adverse metabolic products), tyrosinaemia and albinism (relating with tyrosine), alkaptonuria (impair phenylalanine and tyrosine metabolism), homocystiburia (affects methionine metabolism), maple syrup urine disease (effects …show more content…
(2010). Late-Treated Phenylketonuria and Partial Reversibility of Intellectual Impairment. Child Development, 81(1), pp.200-211.
Koch, R., Fishler, K., Azen, C., Guldberg, P. and Güttler, F. (1997). The Relationship of Genotype to Phenotype in Phenylalanine Hydroxylase Deficiency1. Biochemical and Molecular Medicine, 60(2), pp.92-101.
Murariu, A., Magopet, R., Salceanu, S., Murariu, O. and Petrescu, E. (2012). Phenylketonuria - genetic, clinical and therapeutic aspects. BMC Proceedings, 6(4), p.P6.
Pitt, J.J. (2010). Newborn Screening. The Clinical Biochemist Reviews, 31(2), pp.57–68.
Waisbren, S.E. et al. (2015). Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics. JIMD reports, 21, pp.23–33.
Williams, R.A., Mamotte, C.D.S. and Burnett, J.R. (2008). Phenylketonuria: an inborn error of phenylalanine metabolism. The Clinical Biochemist. Reviews / Australian Association of Clinical Biochemists, 29(1),
Vitamin B12 is an essential water soluble vitamin that must be carefully regulated to prevent deficiency related complications in the nervous, gastrointestinal, and cardiovascular systems (e). This review begins with a discussion of B12 absorption and role as a cofactor for L-methylmalonyl-CoA mutase and methionine synthase (e). Laboratory findings are interpreted along with associated disease conditions. Finally, assay methods are discussed including blood smear and complete blood count, B12 competitive-binding immunoenzymatic assay, homocysteine tandem mass spectrometry, methylmalonic acid liquid chromatography tandem mass spectrometry, and the Schilling test.
Yeowell HN, Steinmann B. Ehlers-Danlos Syndrome, Kyphoscoliotic Form. 2000 Feb 2 [Updated 2013 Jan 24]. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2014. Retrieved from: http://www.ncbi.nlm.nih.gov/books/NBK1462/
Maternal & Child Health Journal, 8(3), 107-110. Retrieved from http://search.ebscohost.com/login.aspx?direct=true&db=a9h&AN=14089739&site=ehost-live.
In our body’s we have thousands upon thousands of cells that work together to maintain the whole structure. Although cells accomplish different roles, they all are comparable in their metabolic conditions. Preserving a continuous inner environment with what the cells require to survive like sugar, minerals, oxygen and waste removal is essential for the cells and host well-being. The diverse process that the body controls its inner environment are referred to as homeostasis. Homeostasis refers to maintaining a stable environment in reaction to environmental changes. The body’s inner environment requires constant observation to maintain a stable inner environment this way if conditions occur they can be adjusted. Homeostatic regulation is the adjustment of systems in the body. “Homeostatic regulation involves three parts or mechanisms: 1) the receptor, 2) the control center and 3) the effector.” (Wikibooks, para. 2)
Conditionally essential amino acids: this are present in many foods, but are not always required to be a part of the daily diet. So long as we successfully absorb sufficient amounts of the essential amino acids, the liver is able to synthesise the remaining others conditionally amino acids. At certain times in life and in certain population groups these amino acids must be supplied by the diet to ensure good health. An adequate intake of the conditionally essential amino acids will also help to spare valuable resources of essential amino acids.
Due to the nature of amino acids, a titration curve can be employed to identify
This occurs when the systemic arterial blood is above 26mEq/liter and the blood pH is above 7.45 (Tortora, 2014). The cause of metabolic alkalosis is too much bicarbonate in the blood, prolonged vomiting, and extreme lack of potassium. When the regular compensatory mechanisms are not working, respiratory compensation through hypoventilation help bring back pH level to normal leaving HCO3- high. Lung assist in compensatory mechanism. Treating metabolic alkalosis consist of correcting Cl-, K+, and other electrolyte deficiencies by providing fluid solutions. Older age compromises the acid-base balance in metabolic alkalosis due to inadequate fluid intake of more water than Na+ which occur through vomiting, feces, or urine. These changes are associated with the kidney.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
5. Witkop, CJ Jr, Quevedo WC Jr, Fitzpatrick TB, and King RA: Albinism, in Scriver CR, Begudet AL, Sly WS and Valla D: The Metabolic Basis of Inherited Disease, ed 6. New York, McGraw Hill, 1989, p 2905-2947.
Maple syrup urine disease is a rare autosomal recessive disorder of branched-chain amino acid metabolism leading to life-threatening cerebral edema, a swelling caused by excessive fluid in the brain and dysmyeination, malformed and defective myelin sheath, in affected individuals. Maple syrup urine disease is associated with a worldwide frequency of about 1 in 180,000 infants.
There are many causes affect to the LBW, one of that is deficiency of micronutrients of pregnant women. Micronutrients such as vitamins and minerals are essential elements for normal body function and growth. During pregnancy, nutrient requirement is increased when developing the fetal, placenta and also important to maternal growth. The impact of micronutrients deficiency on pregnancy is associated with increased maternal morbidity and mortality, abortion, low b...
When a woman is pregnant it is recommended that she does not consume any alcohol. If a woman does consume alcohol during the pregnancy she can cause a disorder called Fetal Alcohol Syndrome (Rank, J.). In 1968, Fetal Alcohol Syndrome was characterized by P. Lamoine and colleagues form Nantes. They reported their findings in the French pediatric journal but unfortunately it didn’t draw to much attention. Five years later, in 1973, it was characterized again by K.L. Jones and colleagues in Seattle. Unlike the report in 1968 that wasn’t a success, this report in the British medical journal, The Lancet, triggered a great amount of reporters of Fetal Alcohol Syndrome (Perlstein, David, MD, FAAP). The disorder is characterized by brain problems, abnormal facial features, growth defects, and organ defects (Rank, J.) Alcohol is considered a teratogen and is the most common cause of mental retardation. “According to research published in Pediatrics, alcohol use among women of childbearing age (18-44 years) constitutes a leading, preventable cause of birth defects and development disabilities in U.S.” (Perlstein, David, MD, FAAP). Even though the disorder is preventable, the defects are not irreversible or unchangeable (Mayo Clinic Staff).
As mentioned above; Hypoalbuminaemia is a predominantly events that occur due to losses of protein urinary. In response to this, hepatic albumin synthesis increased but they are still insufficient to prevent the fall in the serum albumin concentration. Proteinuria, Nephrotic range proteinuria is almost invariably due to glomerular disease.
Millions of babies are tested each year in the United States by a process known as newborn screening. Newborn screening can detect disorders that will occur later in life and try to treat them earlier in life. Disorders like phenylketonuria a genetic disorder that causes mental retardation in newborn babies as they get older if not treated early at birth and hypothyroidism a disorder of the thyroid gland. Phenylketonuria is defined as an inherited disorder that increases the levels of a substance called phenylalanine in the blood. When it comes to any protein phenylalanine is a basic building block of all protein so that would mean that it would be found in all types of meats as well in vegetables and even milk.1
Newborn screening is the practice in which the harmful or potentially fatal conditions that can affect the infant's health or survival are detected. This process can prevent death or health problems and protect the infant against certain diseases and medical conditions. Newborn screening started in 1960's when many states in U.S.A. established a newborn test program for phenylketonuria (PKU) by using the Guthrie method, a system for the collection and transportation of blood samples on filter paper. Many Infants showed developments while receiving treatment. This success led to the addition of tests for other metabolic diseases. Over time, tests were added for endocrine disorders and now newborn screening program include more than 50 individual conditions.