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Inborn Errors of Metabolism (IEMs) are a group of rare genetic disorders caused by the deficiency or malfunctioning of specific enzymes involved in the metabolic pathways. These genetic anomalies disrupt the normal metabolism of proteins, carbohydrates, or lipids, leading to the accumulation of toxic substances or deficiency of critical compounds necessary for normal functioning. Most IEMs follow an autosomal recessive pattern of inheritance, though some may be X-linked or autosomal dominant. Advances in human genetics have been crucial in identifying and understanding these conditions, which often manifest early in life, sometimes immediately after birth. The term "inborn errors of metabolism" was first introduced by Sir Archibald Garrod in the early 20th century, particularly in the context of conditions like alkaptonuria. Garrod suggested that metabolic disorders stemmed from gene mutations affecting specific biochemical pathways. Since then, hundreds of IEMs have been identified, and genetic screening has enabled early detection and management of many of these conditions. IEMs are generally classified based on the type of biochemical defect or the affected metabolic pathway. The major categories include amino acid metabolism disorders, carbohydrate metabolism disorders, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, and lysosomal storage disorders. Each group contains multiple specific conditions, which can vary widely in their clinical presentation, severity, and prognosis. 1. Disorders of Amino Acid Metabolism One of the most well-known IEMs in this category is Phenylketonuria (PKU). This condition results from a deficiency of the enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine into tyrosine. As a result, phenylalanine accumulates in the blood and becomes toxic to the brain. If left untreated, PKU leads to severe intellectual disability, seizures, behavioral problems, and skin disorders. Early diagnosis through newborn screening and management with a low-phenylalanine diet can prevent these complications. Another example is Maple Syrup Urine Disease (MSUD), caused by a deficiency of the branched-chain _______ ______ ______ ___ _________ _____ _______ ________.
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