Common Inborn Error
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Health TopicsDrugs & SupplementsVideos & Tools Español You Are Here: Home → Medical Encyclopedia → Inborn errors of metabolism most common inborn errors of metabolism URL of this page: //medlineplus.gov/ency/article/002438.htm Inborn errors of metabolism To inborn error of metabolism list use the sharing features on this page, please enable JavaScript. Inborn errors of metabolism are rare genetic
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(inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break
Inborn Error Of Metabolism Review
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 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 inborn error of fatty acid metabolism 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 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. Update 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. i
in to get free access. All others: Purchase online access. FREE PREVIEW. Purchase online access to read the full version of this article. TALKAD S. RAGHUVEER, M.D., University of Kansas Medical Center, Kansas City,
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KansasUTTAM GARG, PH.D., and WILLIAM D. GRAF, M.D., Children's Mercy Hospitals and Clinics, inborn error of metabolism definition Kansas City, MissouriAm Fam Physician. 2006 Jun 1;73(11):1981-1990. This article exemplifies the AAFP 2006 Annual Clinical Focus on caring for children and inborn error of metabolism symptoms adolescents. Abstract Early Diagnosis and Screening in Asymptomatic InfantsEarly Diagnosis in Symptomatic InfantsConsiderations in Older Infants and ChildrenImportance of Early TreatmentLong-term TreatmentReferencesArticle Sections Abstract Early Diagnosis and Screening in Asymptomatic InfantsEarly Diagnosis https://medlineplus.gov/ency/article/002438.htm in Symptomatic InfantsConsiderations in Older Infants and ChildrenImportance of Early TreatmentLong-term TreatmentReferencesRecent innovations in medical technology have changed newborn screening programs in the United States. The widespread use of tandem mass spectrometry is helping to identify more inborn errors of metabolism. Primary care physicians often are the first to be contacted by state and reference laboratories when neonatal screening detects the possibility of an http://www.aafp.org/afp/2006/0601/p1981.html inborn error of metabolism. Physicians must take immediate steps to evaluate the infant and should be able to access a regional metabolic disorder subspecialty center. Detailed knowledge of biochemical pathways is not necessary to treat patients during the initial evaluation. Nonspecific metabolic abnormalities (e.g., hypoglycemia, metabolic acidosis, hyperammonemia) must be treated urgently even if the specific underlying metabolic disorder is not yet known. Similarly, physicians still must recognize inborn errors of metabolism that are not detected reliably by tandem mass spectrometry and know when to pursue additional diagnostic testing. The early and specific diagnosis of inborn errors of metabolism and prompt initiation of appropriate therapy are still the best determinants of outcome for these patients. The topic of inborn errors of metabolism is challenging for most physicians. The number of known metabolic disorders is probably as large as the number of presenting symptoms that may indicate metabolic disturbances (Table 11–3). Furthermore, physicians know they may not encounter certain rare inborn errors of metabolism during a lifetime of practice. Nonetheless, with a collective incidence of one in 1,500 persons, at least one of these disorders will be encountered by almost all practici
Pediatrics in Review Journal CME Career Center AAP Policy Sections Login Submit Manuscript AAP Policy & http://pediatrics.aappublications.org/content/102/6/e69 Collections Alerts 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 inborn error prognosis for many of 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 inborn error of are provided for the stabilization and 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
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