Types of inborn errors of metabolism disorders of carbohydrate metabolism mitochondrial disorders peroxisomal disorders selected lysosomal storage disorders summary of fao disorders classification organic acidemia ophthalmologic findings iem metabolic causes hydrops urinary clues to inborn errors of metabolism related topics. This chapter discusses disorders that involve monosaccharide metabolism, intermediary metabolism, and glycogen metabolism, and is modified from a prior detailed evaluation. Carbohydrate metabolism via monosaccharides provides cells with a source of energy as well as. These are a group of rare genetic disorders in which the body cannot metabolize food.
These metabolic diseases may be classified into three main groups, affecting the metabolism of. 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. 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. Pdf inborn errors of metabolism iem are a group of inherited metabolic. Inborn errors of metabolism are inherited disorders in which the body cannot metabolize the components of food carbohydrates, proteins, and the guthrie test, given to newborns, helps doctors diagnose some inborn errors of metabolism before they cause permanent damage. Get a printable copy pdf file of the complete article 2. Inborn errors of metabolism in infancy and early childhood. Inborn errors of carbohydrate metabolism knowledge for. An introduction to pharmacotherapy for inborn errors of metabolism. Many aspects of biochemistry and physiology have to do with the breakdown and synthesis of simple sugars, oligosaccharides, and polysaccharides, and with. Classic galactosemia the most common form 95% most severe form mutations in the galt gene located on short arm of chromosome 9 codes for the enzyme galactose1phosphate uridyltransferase most of these mutations severely diminish or eliminate the activity of the enzyme causing galactosemia accumulation of galactose 1phosphate. Hendersonhasselbach equation measures the anion gap. Inborn errors of metabolism iem refer to genetic mutations that block metabolic pathways usually due to a single enzyme deficiency symptoms usually from absence of required metabolic product or accumulation of a toxic intermediate. Approach to inborn errors of metabolism presenting in the.
More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts and techniques become available for identifying biochemical phenotypes. These disorders are usually caused by defects in the specific enzymes that help to break down metabolize parts of food. Inborn errors of carbohydrate metabolism sciencedirect. 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. Phenylketonuria is the most common disorder of amino acid metabolism. Glycogen storage diseases gsd and inborn errors of galactose and fructose metabolism are the most common representatives of inborn errors of carbohydrate metabolism. Inborn errors of carbohydrate metabolism represent a special challenge in general practice. These errors are recessive and can be passed on from generation to generation undiscovered until the defective gene is present in both parents. Categories inborn errors of metabolism carbohydrate metabolism disorders e. Inherited disorders of carbohydrate metabolism springerlink. These metabolic diseases may be classified into three main groups, affecting the metabolism of glycogen, galactose, and fructose. The disorders are usually caused by defects in specific proteins enzymes that help break down metabolize parts of food.
This makes it essential that the practicing pediatrician be. Full text full text is available as a scanned copy of the original print version. As its name implies, inborn errors means birth defects 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. The book covers currently used biomarkers as well as markers that are in development. Inborn errors of metabolism in children can be challenging to interpret because of the similarity of their appearances on imaging. Disorders of carbohydrate metabolism and amino acid metabolism. Inborn errors of metabolism are rare genetic inherited disorders in which the body cannot properly turn food into energy.
Of metabolism inborn errors of metabolism iem occur 1 in 5000 births collectively often treatable if diagnosed most difficult task for clinician is to know when to consider iem and which tests to order for evaluation clues to presence of iem may often be found in fh diagnosing inborn errors of metabolism signs and symptoms are often nonspecific routine childhood. Inborn errors of metabolism selfassessment quiz pedscases. The inborn errors page contains links to pages describing the clinical and genetic features of numerous inherited diseases and disorders of metabolism. Inborn errors of carbohydrate metabolism university of. Inborn errors of carbohydrate metabolism can be classified according to the underlying enzyme defect in the following groups. These are a group of rare genetic disorders in which the body cannot metabolize food components normally. Inborn errors of carbohydrate metabolism are inborn error of metabolism that affect the catabolism and anabolism of carbohydrates. Almost all of these enzyme defects are inherited in an autosomal recessive fashion. Iem can appear at birth or later in life such as phenylketonuria, albinism, lactose intolerance. Recent advances in the diagnosis and treatment of inborn errors of metabolism have improved substantially the prognosis for many of these conditions. It is one of the commonest inborn errors of metabolism, representing an incidence of 1 in 15,000.
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. 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. Glycogen and fructose, galactose to glucose to pyruvate to actetylcoa and krebs cycle. Inborn errors of carbohydrate metabolism wikipedia. The failure to effectively use this sugars accounts for the majority of the inborn errors of human carbohydrates metabolism. Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism. Decreased paco2 because of compensatory hyperventilation. Inborn errors of metabolism occur from a group of rare genetic disorders in which t he body cannot metabolize food components nor mally. A food product that is not broken down into energy can build up in the body and cause a wide range.
In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of. If an autopsy is not permitted, request consent for premortem or immediately post. All classic disorders of carbohydrate metabolism result from a specific enzyme defect. Clinical aspects and laboratory determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. Inborn errors of metabolism comprise a wide array of diseases and. He called these disorders inborn errors of metabolism. Galactosemia, hereditary fructose intolerance hfi, and. Galactose galactosemia, the inability to metabolize galactose, is the most common monogenic disorder of carbohydrate metabolism, affecting 1 in every 55,000 newborns. Galactosemia, hereditary fructose intolerance hfi, and glycogen storage disease gsd types i, iii, and iv. Disrupted pathway results in buildup of lactic acid and ketones. Carbohydrate metabolism, inborn errors article about. Find out information about carbohydrate metabolism, inborn errors. Inborn errors disrupt carbohydrate metabolism, protein metabolism, fatty acid oxidation, or glycogen storage.
Inborn errors or metabolism metabolism hypoglycemia. Many states have an expanded screening program that covers many more inherited disorders of metabolism, including disorders of fatty acid oxidation and other organic acidemias. Inborn errors of metabolism are a heterogeneous group of disorders that may. The aim of this study was to determine the type and distribution. 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. The clinical presentation of such patients includes varying degrees of hypoglycemia, acidosis, growth failure, and hepatic dysfunction. Inborn errors of metabolism ucsf benioff childrens hospital. Brain may use ketones for fuel by 1224 hours and lactic acid in chronic elevations. Inborn errors of metabolism are a diverse set of conditions. Defects of glycogen degradation which underlie the glycogen storage.
Many disorders of carbohydrate metabolism have an inherited, molecular basis, 1 but do not necessarily present in the perinatal period. There are important clues to the diagnosis based on cli. These are only a very few of the hundreds of known inborn errors of metabolism. Explanation of carbohydrate metabolism, inborn errors. Biomarkers in inborn errors of metabolism 1st edition. This chapter deals with three inborn errors of carbohydrate metabolism that lead to hepatic dysfunction. The major classes of inborn errors of metabolism iem and their characteristic clinical and biochemical features are described below. The number of diseases in humans known to be attributable to inherited point defects in metabolism now.
Inborn errors of metabolism iem are rare genetic disorders which result in the body not being able to properly metabolize food into energy. The society for the study of inborn errors of metabolism. In general, the diseases present in 1 of 800 live births. Inborn errors of metabolism definition nci a group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in. Subgroups disorders of protein metabolism disorders of amino acid metabolism urea cycle defects organic acidemias disorders of carbohydrate metabolism.
Earlier recognition of these inborn errors of metabolism has the. Inborn errors of carbohydrate metabolism springerlink. Looking for carbohydrate metabolism, inborn errors. It also detects some conditions of uncertain clinical significance. Inborn errors of carbohydrate metabolism researchgate. The glycosidic lin ages joining successive glucose residues in. Inborn errors of metabolism iems are individually rare. Is the metabolic acidosis the result of abnormal losses of bicarbonate diarrhea or accumulation of acid. Inborn errors of metabolism are a group of inherited disorders characterized by enzyme defects. Inborn errors of protein metabolism linkedin slideshare. Hence, it is called inborn errors of metabolism or inherited metabolic disorders. This article is primarily concerned with these inherited.
Inborn errors of metabolism can occur in carbohydrate metabolism galactosemia, glycogen storage disease, hereditary fructose intolerance, and others, and protein metabolism phenylketonuria. As its name implies, inborn errors means birth defects in newborn infants which passed down from family and affecting metabolism. Clinical manifestations are usually due to the accumulation of toxic substances in the body. Inborn errors of metabolism a snapshot abbott nutrition. The test requires a small sample of blood, usually taken from the heel.
Inborn errors of intermediary metabolism leading to acute and recurrent intoxication metabolic acidosis, vomiting, lethargy, dehydration, thromboembolic complications or chronic and progressive intoxication developmental delay or ectopia lentis from the accumulation of toxic compounds proximal to. The sixteenth annual symposium of the society for the study of inborn errors of. Learn vocabulary, terms, and more with flashcards, games, and other study tools. Inborn errors of metabolism iem are a group of inherited metabolic disorders leading to enzymatic defects in the human metabolism. The diseases present mostly in infancy, but they are also evident in adulthood. Inborn errors of carbohydrate metabolism slideshare. 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.