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Example Of 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: //medlineplus.gov/ency/article/002438.htm inborn error of metabolism symptoms Inborn errors of metabolism To use the sharing features on this page,

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please enable JavaScript. Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly inborn error of metabolism list 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 not inborn error of metabolism diagnosis 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 can identify

Inborn Error Of Metabolism Review

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. A.D.A.M. is

Health Slideshows Images Psoriasis Medical Images Red, itchy, and scaly skin? Discover common skin conditions like psoriasis, rashes, and more in the collection of medical photos. Allergic Skin Disorders Bacterial Skin Diseases Bites and Infestations inborn error of metabolism definition Diseases of Pigment Fungal Skin Diseases Medical Anatomy and Illustrations Noncancerous, Precancerous & Cancerous Tumors an inborn error of metabolism is caused by Oral Health Conditions Papules, Scales, Plaques and Eruptions Scalp, Hair and Nails Sexually Transmitted Diseases (STDs) Vascular, Lymphatic and Systemic Conditions

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Viral Skin Diseases Additional Skin Conditions Quizzes Take the Sex & Love Quiz! The brain. The body. The bedroom. How much do you know about sex, love, and the human body? Happiness - Test your emotional https://medlineplus.gov/ency/article/002438.htm IQ Superfoods - Are you eating enough? Fat and Fats - What do you know about fat? Skin Pictures - Can you identify these conditions? Chronic Fatigue Syndrome – What do you know about CFS? Conditions Conditions A-Z Procedures A-Z Allergies Alzheimer's Arthritis Asthma Blood Pressure Cancer Cholesterol Chronic Pain Cold & Flu Depression Diabetes Digestion Eyesight Health & Living Healthy Kids Hearing & Ear Heart HIV/AIDS Infectious Disease Lung Conditions http://www.medicinenet.com/script/main/art.asp?articlekey=3951 Menopause Men's Health Mental Health Migraine Neurology Oral Health Pregnancy Senior Health Sexual Health Skin Problems Sleep Thyroid Travel Health Women's Health Symptom Checker Health & Living The No-Diet Approach Lose weight without dieting! Live better and be healthier with these quick nutritional tips from the experts. Diet & Weight Management Exercise & Fitness Nutrition, Food & Recipes Prevention & Wellness Medications Medications Supplements and Vitamins MedTerms Dictionary Pet Health home > medterms medical dictionary a-z list > inborn error of metabolism definition smallermediumlarger Definition of Inborn error of metabolism Fat-Fighting Foods Slideshow Take the Human Body Quiz Causes of Fatigue Slideshow Pictures Inborn error of metabolism: A heritable disorder of biochemistry. Examples of inborn errors of metabolism include albinism, cystinuria (a cause of kidney stones), phenylketonuria (PKU), and some forms of gout, sun sensitivity, and thyroid disease. These are only a very few of the hundreds of known inborn errors of metabolism.Advances in the diagnosis and treatment of inborn errors of metabolism have improved the outlook for many of these conditions so that early diagnosis, if possible in infancy, can be helpful.Many of the inborn errors of metabolism in young infants cause symptoms such as sluggishness (lethargy), poor feeding, apnea (stopping breathing) or tachypnea (fast breathing), and recurrent vomiting.Any infants, particularly full-te

Pediatrics in Review Journal CME Career Center AAP Policy Sections Login Submit Manuscript AAP Policy & Collections Alerts Subscribe aap.org Advertising Disclaimer » PediatricsDecember 1998, VOLUME 102 / ISSUE 6 http://pediatrics.aappublications.org/content/102/6/e69 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 http://www.aafp.org/afp/2006/0601/p1981.html of metabolism have improved substantially the 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 inborn error 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 evaluation and specific treatment.Many of the inborn errors of metabolism, including urea cycle defects, organic acidemias, and certain inborn error of 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 evidence of hepatic dysfunction is the mode of presentation of another important group of inborn errors of metabolism including galactosemia, hereditary tyrosinemia, neonatal hemochromatosis, and a number of other conditions. A subset of lysosomal storage disorders may pres

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 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

 

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