Objectives brief overview of newborn screening of metabolic disorders, inheritance patterns. The major classes of inborn errors of metabolism iem and their characteristic clinical and biochemical features are described below. Recent advances in the diagnosis and treatment of inborn errors of metabolism have improved substantially the prognosis for many of these conditions. Iem are present in all ethnic groups and across every age, most common in newborns and may manifest at any stage of life, from infancy. Hence, it is called inborn errors of metabolism or inherited metabolic disorders. The term inborn errors of metabolism iem, which is also referred to as. Inborn errors of metabolism iems are rare genetic or inherited disorders resulting from an enzyme defect in biochemical and metabolic. Full text full text is available as a scanned copy of the original print version. Describe inborn errors of metabolism in neonates 2. Inborn errors of metabolism test request client information required client name client account no. The number of diseases in humans known to be attributable to inherited point defects in metabolism now. Develop a basic framework for understanding inborn errors of metabolism to aid in recognition and diagnosis of these conditions. Inborn errors of metabolism ucsf benioff childrens hospital. The number of diseases known to be attributable to inherited defects in metabolism now exceeds 500.
Disorders of carbohydrate metabolism and amino acid metabolism. 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. Survey of findings on standard imaging with emphasis on change over time. Address city state zip code patient information required patient id medical record no. This makes it essential that the practicing pediatrician be familiar with the clinical presentation of these disorders. 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. Biomarkers in inborn errors of metabolism sciencedirect.
A term male infant is born to a healthy 24yearold g2p1 mother after an. Multiple inborn errors of metabolism iems have been associated with variable forms of myopathy andor cardiomyopathy. The first opportunity to detect iem occurs during preconception counseling, when pregnant women. In this practical, userfriendly tutorial, a team of international contributors delivers the latest information and clinical insights clinicians need to confidently diagnose and manage pediatric patients. The disorders are usually caused by defects in specific proteins enzymes that help break down metabolize parts of food. Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. Review differential for metabolic encephalopathy in the newborn. Inborn errors of metabolism iem are a diverse group of disorders that are almost always. Each type of mps has classic or severe presentations as well as. He called these disorders inborn errors of metabolism. 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.
Biochemical genetics, with its various inherited metabolic disorders inborn errors of metabolism, has become more important in the routine care of hospitalized pediatric patients. Get an overview of the disorders of carbohydrate metabolism and amino acid metabolism and learn more about glycogen storage disease, galt deficiency, phenylketonuria, homocystinuria, and alkaptonuria. Pediatric endocrinology and inborn errors of metabolism. Identify major macronutrients involved in inborn errors. Biochemical genetics and inborn errors of metabolism. Clinical manifestations are usually due to the accumulation of toxic substances in the body. These products are regulated under food and drug administration fda food and dietary supplement statutes. These disorders cause dementia, peripheral neuropathy, and ataxia as initial features and are discussed in several chapters. Inborn errors of metabolism an inherited enzyme deficiency leading to the disruption of normal bodily metabolism accumulation of a toxic substrate compound acted upon by an enzyme in a chemical reaction impaired formation of a product normally produced by the deficient enzyme. One group of such diseases are the inborn errors of metabolism iem, a heterogeneous group of over 500 disorders, individually rare but with.
Numerous genetic disorders are caused by errors in fatty acid metabolism. Is the metabolic acidosis the result of abnormal losses of bicarbonate diarrhea or accumulation of acid. Get a printable copy pdf file of the complete article 2. Due to financial constraints, screening of all new born babies in. 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 are rare genetic inherited disorders in which the body cannot properly turn food into energy.
The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances substrates into others products. Inborn errors of metabolism iem generally refer to gene mutations or gene deletions that alter metabolism in the body, including but not limited to. Inborn errors or metabolism metabolism hypoglycemia. The conditions discussed here are less common, but other neurological features are not prominent initial.
Duke university school of medicine, emory university school of medicine. These reactions are responsible for the breakdown of nutrients and the generation of energy in our bodies. This article is primarily concerned with these inherited. Inborn errors of metabolism case based pediatrics chapter. National institute of neurological disorders and stroke ninds, nih. Inborn errors of metabolism 156 infancy, not with a specific laboratory abnormality, but with organomegaly, facial coarseness and neurodegeneration and show a progressively degenerative course. Inborn errors of metabolism are a group of inherited disorders characterized by enzyme defects. Decreased paco2 because of compensatory hyperventilation. Approach to inborn errors of metabolism learn pediatrics. Most tapetoretinal degenerations are hereditary and due to inborn errors of lipid or carbohydrate metabolism. 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. Dysmorphology of inborn errors of metabolism article pdf available in molecular cytogenetics 7suppl 1 proceedings of the international conference on human.
These disorders may be described as fatty oxidation disorders or as a lipid storage disorders, and are any one of several inborn errors of metabolism that result from enzyme defects affecting the ability of the body to oxidize fatty acids in order to produce energy within muscles, liver, and other cell types. Inborn errors of metabolism iem are a group of disorders that causes a block in a metabolic pathway leading to clinically significant consequences. Most are rare but some are common, for example phenylketonuria pku occurs 1 in 12,000 births 1. Inborn errors of metabolism are rare genetic inherited disorders due to defects of single genes that code for enzymes that facilitate conversion of various substances into others products. As its name implies, inborn errors means birth defects in newborn infants which passed down from family and affecting metabolism. As outcomes improve in many areas of the world for common infectious causes of child morbidity and mortality, the contribution of other less common illnesses to the burden of disease in those under 5 years old is receiving increased attention 1,2. These are only a very few of the hundreds of known inborn errors of metabolism. Newborn screening also is contributing to the increased awareness of inherited metabolic disorders. Nutritional management of inborn errors of metabolism kay. Hendersonhasselbach equation measures the anion gap. Medical foods and dietary supplements are used to treat rare inborn errors of metabolism iem identified through statebased universal newborn screening. Nutritional treatment for inborn errors of metabolism. 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. Research challenges in cns manifestations of inborn errors of metabolism agenda 3 assessing outcomes in cns part 2 neuroimaging and delivery continued panel discussion.
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. An inherent deficiency in a key metabolic pathway resulting in. While in many cases the disorder cannot be cured, disease outcomes and life expectancy can be improved with supportive care and the appropriate diet. Inborn errors of metabolism iem, although individually rare, occur in 1 out of every 1,500 births. Get a printable copy pdf file of the complete article 1. Inborn errors of metabolism american academy of pediatrics. Inborn errors of metabolism ppt linkedin slideshare.
Nutritional management of inborn errors of metabolism kay davis, rd, csp esther berenhaut, rd, csp, csr aug 28, 2017. Appreciate that although most classic metabolic disorders present in infancy, most conditions can also present with milder variants later in life. Global birth prevalence and mortality from inborn errors. Table 1 includes a nonexhaustive list of more frequently encountered disorders. Patient name last, first, middle gender male female birth date month dd, yyyy collection date month dd, yyyy time a. Trahms, in nutrition in the prevention and treatment of disease, 2001. A food product that is not broken down into energy can build up in the body and cause a wide range. As its name implies, inborn errors means birth defects in. A practical clinical approach to the recognition of inborn errors of metabolism in the young infant is presented in. Inborn errors of metabolism iem are a group of inherited metabolic disorders leading to enzymatic defects in the human metabolism.
Iem can appear at birth or later in life such as phenylketonuria. Approach to inborn errors of metabolism presenting in the. Download pediatric endocrinology and inborn errors of metabolism pdf summary. Glycogen storage diseases, galactosemia, hereditary fructose intolerance. Full text get a printable copy pdf file of the complete article 517k, or click on a page image below to browse page by page. In this blog post, you will be able to download free pdf ebook copy of pediatric endocrinology and inborn errors of metabolism pdf.
Schizophrenia and several rare inborn errors of metabolism associated with enzyme deficiencies are linked with distinctive body odour. Pediatric endocrinology and inborn errors of metabolism, 2e. Common metabolic disorder inborn errors of metabolism concerns. Discuss advances in neonatal care of patients with inborn errors of metabolism. Request pdf inborn errors of metabolism inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic. Definitive diagnosis may require documentation of the enzyme deficiency in. Metabolic myopathies associated with energy defects involve primarily defects in fao, glycogenolysis, glycolysis, oxidative. Pdf biochemical genetics and inborn errors of metabolism. Inborn errors of metabolism iem are disorders in which there is a block in the normal metabolic pathway that is caused by a genetic defect of a specific enzyme.
628 1057 931 745 832 814 844 1401 1097 1331 404 771 1139 1108 185 824 834 425 565 860 1466 61 1171 1111 1470 309 201 187 1413 971 433 628 815