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 …show more content…
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),
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/
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.
Scriver, Charles R, Beaudet, Arthur L, Sly, William S, et al. (2001). The metabolic and molecular bases of inherited disease. 8th ed. London: McGraw-Hill. Pp 1634-1639.
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.
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.
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.
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.
Due to the nature of amino acids, a titration curve can be employed to identify
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...
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Methemoglobinemia is an uncommon but possible reason for cyanosis. Methemoglobinemia is significant because the disease is fairly rare and consequently most physicians do not consider it as a cause when diagnosing a patient with cyanosis. Regrettably, patients often get misdiagnosed and sometimes treated for the wrong disorder as a result. A two fold dilemma occurs when the patient is treated for an incorrect disorder. The first part of the dilemma includes the patient experiencing all of the negative side effects of the wrong treatment, and gaining no benefit. The second part of the dilemma is that the patient’s actual medical condition is not being treated, and is getting worse with time. The higher the level of methemoglobin in the blood the higher the patient’s chances of dying are. Another thing for doctors to acknowledge is when methemoglobinemia is not considered a valid diagnosis; numerous unnecessary laboratory tests are performed. When unneeded laboratory tests are performed the medical laboratory technologist’s time is wasted when they could be running another patient’s samples. Also running unnecessary laboratory tests costs a great deal of money. During the analysis of cyanosis, physicians should consider methemoglobinemia as a valid diagnosis.
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.
3. McKusick, V. (1996, 06). PAH DEFICIENCY OLIGOPHRENIA PHENYLPYRUVICA FOLLING DISEASE. PHENYLKETONURIA; PKU. Retrieved 04, 2014, from http://omim.org/entry/261600
CAH caused by steroid 21-hydroxylase deficiency occurs in 1:16,000 to 1:20,000 births. Infants with the salt-losing form of CAH can rapidly become hyperkalemic and die, often without a specific diagnosis.