Ppt approach to inborn errors of metabolism powerpoint presentation free to download id. A food product that is not broken down into energy can build up in the body and cause a wide range. The disorders are usually caused by defects in specific proteins enzymes that help break down metabolize parts of food. A free powerpoint ppt presentation displayed as a flash slide show on id. If you continue browsing the site, you agree to the use of cookies on this website. Approach to patient with inborn errors of metabolism. Inborn errors of metabolism iem, although individually rare, occur in 1 out of every 1,500 births. V metabolism metabolism catabolism breaking down anabolism building up enzymes play an important role in facilitating the process by serving as catalysts in the conversion of one chemical metabolite to another. Inborn errors of metabolism, encephalopathy, hyperammonemia. Arial wingdings gungsuh clouds approach to inborn errors of metabolism goals for this lecture. Inborn errors of metabolism iem are a group of disorders that result from impairment in normal metabolic processes, most often due to an enzyme or transporter. Approach to inborn error of metabolism in a neonate.
Is the metabolic acidosis the result of abnormal losses of bicarbonate diarrhea or accumulation of acid. Early recognition of inborn errors of metabolism iem and prompt management are essential to prevent death or neurodisability diagnosis of iem in neonates is often delayed owing to nonspecific nature of clinical presentation, and unfamiliarity with diagnostic tests seek advice from local and regional clinical chemistry services. Inborn errors of metabolism 159 it is important to make a specific diagnosis, even in a dying child, to help parents understand what happened and to provide information that might affect future reproductive planning. Many of these disorders are detected through newborn screening or clinical suspicion. Inborn errors of metabolism definition of inborn errors. Discuss methods for early recognition and treatment of neonates with inborn errors of metabolism 3. Approach to inborn errors authorstream presentation. Approach to inborn errors of metabolism introduction also known as biochemical diseases, inherited metabolic disorders are mostly single gene disorders that affect one of the biochemical processes of the body. He is known for work that prefigured the one geneone enzyme hypothesis, based on his studies on the nature and inheritance of alkaptonuria. Inborn errors of metabolism inborn errors of metabolism an inherited enzyme deficiency leading to the disruption of normal bodily metabolism accumulation of a toxic substrate compound acted. Inborn errors of metabolism iems are rare genetic or inherited disorders resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism.
Inborn errors of metabolism iem is the term for a large and diverse group of genetic diseases. Approach to inborn errors of metabolism for an endocrinologist. Recent advances in the diagnosis and treatment of inborn errors of metabolism have improved substantially the prognosis for many of these conditions. Fortunately, with better treatments and diagnosis, the outlook has improved for. Approach to inborn errors of metabolism presenting in the. The concept of inborn errors of metabolism iem was introduced by archibald garrod in 1909. Introduction to iem differential diagnosis of any sick neonate iem are individually rare overall incidence upto 1 in 2000 high index of suspicion for diagnosis 3. Inborn errors of metabolism iems individually are rare but collectively are common.
Inborn errors of metabolism iem are disorders in which there is a block at some point in the normal metabolic pathway caused by a genetic defect of a specific enzyme. Learn vocabulary, terms, and more with flashcards, games, and other study tools. The number of diseases in humans known to be attributable to inherited point defects in metabolism now exceeds 500. Msud maple syrup urine disease only amino acid disorder that presents acutely in the neonatal period.
Inborn errors of metabolism recognition early recognition of inborn errors of metabolism iem and prompt management are essential to prevent death or neurodisability diagnosis of iem in neonates is often delayed owing to nonspecific nature of. 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. Develop a basic framework for understanding inborn errors of metabolism to aid in recognition and diagnosis of these conditions. Inborn errors of metabolism university of new mexico. Recognition and diagnostic approach to acute metabolic. If your family has a history of inborn errors of metabolism, your child may be at risk for genetic conditions that can cause neurological problems. If an autopsy is not permitted, request consent for premortem or immediately post. Inborn errors of metabolism a snapshot abbott nutrition. Vahabi suspicion an important key to diagnosing iem is thinking about the possibility in the first place the symptoms. Approach to inborn errors of metabolism presenting in the neonate. Hepatic inborn errors of metabolism diet restricted in tyrosine and phenylalanine.
One of the major milestones in the development of this branch of medicine was the description of phenylketonuria pku by folling in 1934 1, 2. This article is primarily concerned with these inherited. Biomarkers in inborn errors of metabolism sciencedirect. Approach to inborn errors of metabolism learn pediatrics. Debra regier and holly bloom for childrens national medical center.
Inborn errors of metabolism iem can present as acute metabolic emergencies resulting in significant morbidity, progressive neurologic injury, or death. Inborn errors of metabolism iem are individually rare, but collectively numerous. Dietary management for inborn errors of metabolism. Decreased paco2 because of compensatory hyperventilation. Mannenbach, md, assistant professor, department of pediatric and adolescent medicine, mayo college of medicine, rochester, mn.
Ppt approach to inborn errors of metabolism powerpoint. Trahms, in nutrition in the prevention and treatment of disease, 2001. The major classes of inborn errors of metabolism iem and their characteristic clinical and biochemical features are described below. Laboratory diagnostic approaches in metabolic disorders. The incidence of iem ranges from 1 in 500 to 1 in 1500 births 1, 3, 46. Galactose galactosemia, the inability to metabolize galactose, is the most common monogenic disorder of carbohydrate metabolism, affecting 1 in every 55,000 newborns. Inborn errors of metabolism iem are genetic disorders of intermediary metabolism that result in metabolic defects due to deficiency of enzymes, membrane transporters, or other functional proteins. Although the sheer number of iem is daunting, a systematic and logical approach to test selection in a patient with a clinical presentation of a metabolic defect, regardless of age, can lead to a high degree of diagnostic success.
His seminal text, inborn errors of metabolism was published in 1923. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Ppt inborn errors of metabolism powerpoint presentation. Most are rare but some are common, for example phenylketonuria pku occurs 1 in 12,000 births 1. Individually they are rare but together they are common with a. Inborn errors of metabolism are inherited biochemical disorders with specific enzyme defect that interferes with the normal metabolism of protein, fat or carbohydrate. Inborn errors of metabolism iem are a group of disorders that causes a block in a metabolic pathway leading to clinically significant consequences.
Clinical approach to inborn errors of metabolism in. Dietary management for inborn errors of metabolism clinical symptoms of iems may appear at the very early stages of life. Describe inborn errors of metabolism in neonates 2. Approach to inborn errors of metabolism in pediatrics pediatric. The application of tandem mass spectrometry tandem ms to newborn screening and prenatal diagnosis has enabled. Inborn errors of metabolism arenow often referred to ascongenital metabolic diseasesor inherited metabolic diseases 3 4. Started in 1995, this collection now contains 6767 interlinked topic pages divided into a tree of 31 specialty books and 732 chapters. Garrods hypothesis a b c product deficiency substrate excess d toxic metabolite 4 5. These reactions are responsible for the breakdown of nutrients and the generation of energy in our bodies. Recognize that urea cycle disorders can result in hyperammonemia, which is a medical emergency that requires prompt diagnosis and treatment. Many of these conditions are very serious, and may even be lifethreatening. Inborn errors of metabolism iem an indian perspective medind. Although garrod was incorrect in his categorization of cystinuria, his insights provided the field of biochemical genetics with a solid foundation, and the list of inherited inborn errors of metabolism has rapidly grown.
Dietary management, sometimes combined with pharmacological treatment, can help optimise health outcomes, making newborn screening essential. Approach to inborn errors of metabolism pediatrics slideshare uses cookies to improve functionality and performance, and to provide you with relevant advertising. A practical clinical approach to the recognition of inborn errors of metabolism in the young infant is presented in. A snapshot summary inborn errors of metabolism iem are single gene defects that result in abnormalities in the synthesis or catabolism of proteins, carbohydrates or fats. Inborn errors of metabolism are defects in the mechanisms of the body which break down specific parts of food into chemicals the body is able to use. Schafermeyer, md, facep, faap, fifem, associate chair, department of emergency medicine, carolinas medical center. The failure to effectively use this sugars accounts for the majority of the inborn errors of human carbohydrates metabolism.
Inborn error of metabolism an overview sciencedirect. Approach to inborn error of metabolism in a neonate free download as powerpoint presentation. This makes it essential that the practicing pediatrician be familiar with the clinical presentation of these disorders. The term inborn errors of metabolism was coined by a british physician, archibald garrod 18571936, in 1908. Inborn errors of metabolism are rare genetic inherited disorders in which the body cannot properly turn food into energy. Inborn errors of metabolism iem include a broad spectrum of defects of various gene products that affect intermediary metabolism in the body, resulting in clinical disease. Inborn errors of metabolism iem are disorders in which there is a block at some point in the normal metabolic pathway caused by a genetic defect of a specific. The recent application of tandem mass spectrometry tandem. Inborn errors of metabolism make up a large group of rare disorders caused by an inherited deficiency or absence of proteins that have enzymatic, carrier, receptor, or structural roles. Rule out nonmetabolic causes of symptoms such as infection or asphyxia. Hendersonhasselbach equation measures the anion gap.
He called these disorders inborn errors of metabolism. Inborn errors of metabolism iem are present at birth and persist throughout life. Review differential for metabolic encephalopathy in the newborn. Easy and simple explanation of metabolic disorders, its recommended after viewing this video to read the metabolic disorders from any pediatric. Congenital metabolic disorders result from the absence or abnormality of an enzyme or its cofactor, leading to either accumulation or deficiency of a specific metabolite table 1 and table 2 and table 3 and table 4 and table 5 and table 6. Inborn errors of metabolism university of miami health. Inborn errors of metabolism presenting in neonates inborn errors of metabolism iem are disorders in which there is a block at some point in the normal metabolic pathway caused by a genetic defect of a specific enzyme. Pdf biochemical genetics and inborn errors of metabolism.
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