For Inborn Error Of Metabolism
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Health TopicsDrugs & SupplementsVideos & Tools Español You Are Here: Home → Medical Encyclopedia → Inborn errors of metabolism URL of this page: inborn errors of metabolism symptoms //medlineplus.gov/ency/article/002438.htm Inborn errors of metabolism To use the sharing features on inborn errors of metabolism made easy this page, please enable JavaScript. Inborn errors of metabolism are rare genetic (inherited) disorders in which the body inborn errors of metabolism ppt cannot 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 inborn errors of metabolism pdf 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 metabolism. A few of them are:Fructose intoleranceGalactosemiaMaple sugar urine disease (MSUD)Phenylketonuria (PKU) Newborn
Inborn Errors Of Amino Acid Metabolism
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. 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 rigor
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Inborn Errors Of Metabolism Chart
to enter your username and password the next time you visit. Log out inborn errors of metabolism screening tests Cancel https://profreg.medscape.com/px/getpracticeprofile.do?method=getProfessionalProfile&urlCache=aHR0cDovL2VtZWRpY2luZS5tZWRzY2FwZS5jb20vYXJ0aWNsZS84MDQ3NTctd29ya3Vw processing.... Inborn Errors of MetabolismWorkup Author: Debra L Weiner, MD, PhD; Chief Editor: Stephen Kemp, MD, PhD inborn errors of metabolism treatment 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 StudiesMake every effort to collect specimens for definitive diagnosis https://medlineplus.gov/ency/article/002438.htm 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 acute life-threatening presentation can be categorized based on findings of initial laboratory evaluations http://emedicine.medscape.com/article/804757-workup 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 sometimes with compensatory metabolic acidosis. Ammonia in organic acidemias, if elevated, rarely exceeds 500 mcg/dL, and in fatty acid oxidation defects is usually less than 250 mcg/d
Pediatrics in Review Journal CME Career Center AAP Policy Sections Login Submit Manuscript AAP Policy & Collections Alerts Subscribe aap.org Advertising Disclaimer » PediatricsDecember http://pediatrics.aappublications.org/content/102/6/e69 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 http://www.aafp.org/afp/2006/0601/p1981.html advances in the diagnosis and treatment of inborn errors of metabolism have improved substantially the prognosis for many of these conditions. This makes it essential that the practicing pediatrician be inborn error 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 emergency treatment of critically ill infants. This approach will identify those infants who will benefit from additional inborn errors of 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 fatty acid oxidation defects. The latter disorders, among the most common encountered, exhibit marked clinical variability and also may present as a sudden death, a Reye's-like episode, or a cardiomyopathy. Jaundice or other evidenc
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, KansasUTTAM GARG, PH.D., and WILLIAM D. GRAF, M.D., Children's Mercy Hospitals and Clinics, 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 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 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 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 diagno