Inborn error of metabolism

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Inborn Error of Metabolism

Inborn errors of metabolism (pronunciation: /ɪnbɔːrn ˈɛrər ɒv mɛtəˈbɒlɪzəm/) are a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).

Etymology

The term "inborn error of metabolism" was coined by a British physician, Archibald Garrod (1857–1936), in the early 20th century. He is known for his studies of biochemistry and genetics in relation to medicine.

Classification

Inborn errors of metabolism are classified according to the affected enzyme or the metabolic pathway. They can be categorized into disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, fatty acid oxidation and mitochondrial metabolism, lysosomal storage disorders, and peroxisomal disorders.

Symptoms and Diagnosis

Symptoms of inborn errors of metabolism vary widely and are often nonspecific, making diagnosis challenging. They can present at any age, but most become apparent in infancy or early childhood. Diagnosis is typically made through biochemical tests on blood, urine, and sometimes cerebrospinal fluid, and genetic testing.

Treatment

Treatment for inborn errors of metabolism varies depending on the specific disorder, but often involves dietary management to limit the intake of a particular metabolite or to supplement a deficient metabolite. Some disorders can be managed with medications or, in severe cases, organ transplantation.

Related Terms

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