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Health TopicsDrugs & SupplementsVideos & Tools Español You Are Here: Home → Medical Encyclopedia → Inborn errors of metabolism URL of this page: //medlineplus.gov/ency/article/002438.htm Inborn errors of metabolism To use the sharing inborn errors of metabolism symptoms features on this page, please enable JavaScript. Inborn errors of metabolism are rare inborn errors of metabolism made easy genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in
Inborn Errors Of Metabolism Ppt
specific proteins (enzymes) that help break down (metabolize) parts of food. A food product that is not broken down into energy can build up in the body and cause a wide range of
Inborn Errors Of Metabolism Pdf
symptoms. Several inborn errors of metabolism cause developmental delays or other medical problems if they are not controlled. There are many different types of inborn errors of metabolism. A few of them are:Fructose intoleranceGalactosemiaMaple sugar urine disease (MSUD)Phenylketonuria (PKU) Newborn screening tests can identify some of these disorders.Registered dietitians and other health care providers can help create a diet that is right for each specific disorder.Alternative Names inborn errors of amino acid metabolism Metabolism - inborn errors ofImages Galactosemia References Bodamer OA. Approach to inborn errors of metabolism. In: Goldman L, Schafer AI, eds. Goldman's Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 205.Rezvani I, Rezvani G. An approach to inborn errors of metabolism. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 78. Review Date 4/20/2015 Updated by: Chad Haldeman-Englert, MD, FACMG, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team. Related MedlinePlus Health Topics Metabolic Disorders Browse the Encyclopedia A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial policy, editorial process and privacy policy. A.D.A.M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation (www.hon.ch). The infor
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Inborn Errors Of Metabolism Screening Tests
you will be required to enter your username and password the next inborn errors of metabolism chart time you visit. Log out Cancel https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cDovL2VtZWRpY2luZS5tZWRzY2FwZS5jb20vYXJ0aWNsZS84MDQ3NTctd29ya3Vw processing.... Inborn Errors of MetabolismWorkup Author: Debra L Weiner, MD, PhD; inborn errors of metabolism treatment Chief Editor: Stephen Kemp, MD, PhD more...OverviewPresentationDDxWorkupTreatmentMedicationFollow-upUpdated: Feb 18, 2015What would you like to print?Print this section Print the entire contents of Laboratory StudiesImaging StudiesOther Tests Show All TablesReferencesLaboratory https://medlineplus.gov/ency/article/002438.htm StudiesMake every effort to collect specimens for definitive diagnosis while the child is acutely ill (particularly samples for biochemical analysis since biochemical abnormalities may be transient).Laboratory abnormalities can be transient. Therefore, values within the reference range do not rule out an inborn error of metabolism (IEM). Studies may need to be repeated during other episodes of illness.Most IEMs with http://emedicine.medscape.com/article/804757-workup acute life-threatening presentation can be categorized based on findings of initial laboratory evaluations with the presence of at least 1 of the following (see Table 1 below): Metabolic acidosis: Metabolic acidosis usually with elevated anion gap occurs with many IEMs and is a hallmark of organic acidemias (see the Anion Gap calculator). Manifestations include tachypnea, vomiting, lethargy. Hypoglycemia: A prospective study revealed that in the ED, hypoglycemia (plasma glucose level < 50 mg/dL) is rare in children (0.44% of those tested), even during periods of poor enteral intake. In a study of 40 children with hypoglycemia, 32 had a metabolic workup performed on initial samples, and 28% of those had a previously undiagnosed fatty acid oxidation defect or endocrine disorder. Hyperammonemia: Early manifestations include anorexia, abdominal pain, headache, irritability, fatigue, late-tachypnea, vomiting, lethargy, seizures, coma, and death. Ammonia level greater than 100 mcg/dL in the neonate and greater than 80 mcg/dL beyond the neonatal period is considered elevated. Ammonia is highest in the urea cycle defects often exceeding 1000 mcg/dL and causing primary respiratory alkalosis s
Pediatrics in Review Journal CME Career Center AAP Policy Sections Login Submit Manuscript AAP Policy & Collections Alerts http://pediatrics.aappublications.org/content/102/6/e69 Subscribe aap.org Advertising Disclaimer » PediatricsDecember 1998, VOLUME 102 / ISSUE 6 Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis Barbara K. Burton Article Figures & Data Info & Metrics Comments Download PDF AbstractRecent advances in the diagnosis and treatment of inborn errors of metabolism have improved substantially the prognosis for many of inborn error these conditions. This makes it essential that the practicing pediatrician be familiar with the clinical presentation of these disorders. A practical clinical approach to the recognition of inborn errors of metabolism in the young infant is presented in this review. Indications for specific laboratory studies are discussed. Guidelines are provided for the stabilization and inborn errors of emergency treatment of critically ill infants. This approach will identify those infants who will benefit from additional evaluation and specific treatment.Many of the inborn errors of metabolism, including urea cycle defects, organic acidemias, and certain disorders of amino acid metabolism, present in the young infant with symptoms of an acute or chronic metabolic encephalopathy. Typical symptoms include lethargy, poor feeding, apnea or tachypnea, and recurrent vomiting. Metabolic acidosis and/or hyperammonemia are observed in many of these conditions, but there are notable exceptions, including nonketotic hyperglycinemia and molybdenum co-factor deficiency. Therefore, appropriate laboratory testing for metabolic disorders should be performed in any infant who exhibits these findings. Although sepsis may be the initial consideration in a neonate with these symptoms, inborn errors of metabolism should always be in the differential diagnosis, particularly in a full-term infant with no specific risk factors.Hypoglycemia may be the predominant finding in a number of inborn errors of metabolism, including glycogen storage disorders, defects in gluconeogenesis, and f
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