Most Common Inborn Error Of Metabolism
Contents |
& Perspective Drugs & Diseases CME & Education close Please confirm that you would like to log inborn errors of metabolism made easy out of Medscape. If you log out, you will be required
Inborn Errors Of Metabolism Chart
to enter your username and password the next time you visit. Log out Cancel https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cDovL2VtZWRpY2luZS5tZWRzY2FwZS5jb20vYXJ0aWNsZS84MDQ3NTctY2xpbmljYWw= processing.... inborn errors of metabolism screening tests Inborn Errors of MetabolismClinical Presentation Author: Debra L Weiner, MD, PhD; Chief Editor: Stephen Kemp, MD, PhD more... Overview Presentation DDx Workup Treatment Medication inborn errors of metabolism treatment Follow-up Updated: Feb 18, 2015 What would you like to print? Print this section Print the entire contents of History Physical Causes Show All Tables References History The history varies with age at presentation and is a function of the age at which various inborn errors of metabolism (IEMs) manifest clinically.
Inborn Error Of Amino Acid Metabolism
The patient’s history may include the following: Symptoms that range from abrupt in onset and episodic to chronic and progressive Poor feeding, vomiting, failure to thrive, lethargy Developmental delay, sometimes with loss of milestones Onset of symptoms with change in diet and unusual dietary preferences, particularly protein or carbohydrate aversion Decompensation out of proportion to what would be expected from intercurrent infection Similar findings of unexplained neonatal or sudden infant deaths in siblings or maternal male relatives (A negative family history does not rule out IEM.) Possible parental consanguinity (increases the likelihood of autosomal recessive IEM) Neonate Consider an inborn error of metabolism (IEM) in any critically ill neonate. Frequently, the most important clue is a history of deterioration, often life-threatening, after an initial period of apparent good health ranging from hours to weeks, usually following an uncomplicated pregnancy and delivery in a term infant. In term infants without risk for sepsis who develop the sympto
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 ppt Inborn errors of metabolism To use the sharing features on this inborn errors of metabolism pdf page, please enable JavaScript. Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot
Inborn Errors Of Protein Metabolism
properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food. A food product that is http://emedicine.medscape.com/article/804757-clinical 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 metabolism. A few of them are:Fructose intoleranceGalactosemiaMaple sugar urine disease (MSUD)Phenylketonuria (PKU) Newborn screening tests https://medlineplus.gov/ency/article/002438.htm 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. 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.
& Perspective Drugs & Diseases CME & Education close Please confirm that you would like to log out of Medscape. If you log out, you will be required to enter your http://emedicine.medscape.com/article/804757-overview username and password the next time you visit. Log out Cancel https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cDovL2VtZWRpY2luZS5tZWRzY2FwZS5jb20vYXJ0aWNsZS84MDQ3NTctb3ZlcnZpZXc= processing.... Inborn Errors of Metabolism Author: Debra L Weiner, MD, PhD; Chief Editor: Stephen Kemp, MD, PhD more... Overview Presentation DDx Workup Treatment Medication Follow-up Updated: Feb 18, 2015 What would you like to print? Print this section Print the entire contents of Background Pathophysiology Epidemiology Show All Tables References inborn error Background Inborn errors of metabolism (IEMs) individually are rare but collectively are common. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Diagnosis does not require extensive knowledge of biochemical pathways or individual metabolic diseases. An understanding of the major clinical manifestations of inborn errors of metabolism provides the basis for knowing when to consider the diagnosis. inborn errors of A high index of suspicion is most important in making the diagnosis. For patients with suspected or known inborn errors of metabolism, successful emergency treatment depends on prompt institution of therapy aimed at metabolic stabilization. Asymptomatic neonates with newborn screening results positive for an inborn error of metabolism may require emergent evaluation including confirmatory testing, and as appropriate, initiation of disease-specific management. Next Pathophysiology Single gene defects result in abnormalities in the synthesis or catabolism of proteins, carbohydrates, fats, or complex molecules. Most are due to a defect in an enzyme or transport protein, which results in a block in a metabolic pathway. Effects are due to toxic accumulations of substrates before the block, intermediates from alternative metabolic pathways, defects in energy production and use caused by a deficiency of products beyond the block, or a combination of these metabolic deviations. Nearly every metabolic disease has several forms that vary in age of onset, clinical severity, and, often, mode of inheritance. Categories of inborn errors of metabolism, or IEMs, are as follows: Disorders that result in toxic accumulation Disorders of protein metabolism (eg, amino acidopathies, organic acidopathies, urea cycle defects) Disorders of carbohydrate intolerance Lysosomal stor