Inborn Error Of
Contents |
Health TopicsDrugs & SupplementsVideos & Tools Español You Are Here: Home → Medical Encyclopedia → Inborn errors of metabolism URL of this inborn errors of metabolism made easy page: //medlineplus.gov/ency/article/002438.htm Inborn errors of metabolism To use the sharing features
Inborn Error Of Amino Acid Metabolism
on this page, please enable JavaScript. Inborn errors of metabolism are rare genetic (inherited) disorders in which inborn errors of metabolism screening tests the body 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 inborn errors of metabolism ppt 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 metabolism. A few of them are:Fructose intoleranceGalactosemiaMaple sugar urine
Inborn Errors Of Metabolism Chart
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. 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 ind
D008661 [edit on Wikidata] Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. The majority are due to inborn errors of metabolism pdf defects of single genes that code for enzymes that facilitate conversion inborn errors of metabolism treatment of various substances (substrates) into others (products). In most of the disorders, problems arise due to
Inborn Errors Of Protein Metabolism
accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now https://medlineplus.gov/ency/article/002438.htm often referred to as congenital metabolic diseases or inherited metabolic diseases. The term inborn error of metabolism was coined by a British physician, Archibald Garrod (1857–1936), in 1908. He is known for work that prefigured the "one gene-one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn https://en.wikipedia.org/wiki/Inborn_error_of_metabolism Errors of Metabolism was published in 1923.[1] Contents 1 Classification 2 Signs and symptoms 3 Diagnosis 4 Treatment 5 Epidemiology 6 References 7 External links Classification[edit] Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. In recent decades, hundreds of new inherited disorders of metabolism have been discovered and the categories have proliferated. Following are some of the major classes of congenital metabolic diseases, with prominent examples of each class. Many others do not fall into these categories. Disorders of carbohydrate metabolism E.g., glycogen storage disease Disorders of amino acid metabolism E.g., phenylketonuria, maple syrup urine disease, glutaric acidemia type 1 Urea Cycle Disorder or Urea Cycle Defects E.g., Carbamoyl phosphate synthetase I deficiency Disorders of organic acid metabolism (organic acidurias) E.g., alcaptonuria, 2-hydroxyglutaric acidurias Disorders of fatty acid oxidation and mitochondrial metabolism E.g., Medium-chain acyl-coenzyme A dehydrogenase deficiency (often shortened to MCADD.) Disorders of porphyrin metabolism E.g., acute inter
Health Slideshows Images Psoriasis Medical Images Red, itchy, and scaly skin? Discover common skin conditions like psoriasis, rashes, and more http://www.medicinenet.com/script/main/art.asp?articlekey=3951 in the collection of medical photos. Allergic Skin Disorders Bacterial Skin Diseases Bites and Infestations Diseases of Pigment Fungal Skin Diseases Medical Anatomy and Illustrations Noncancerous, Precancerous & Cancerous Tumors Oral Health Conditions Papules, Scales, Plaques and Eruptions Scalp, Hair and Nails Sexually Transmitted Diseases (STDs) Vascular, Lymphatic and Systemic Conditions Viral Skin Diseases Additional Skin inborn error 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 IQ Superfoods - Are you eating enough? Fat and Fats - What do you know about fat? Skin Pictures - Can you identify these conditions? inborn errors of 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 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