Medical research

The circadian clock in heart failure

Disrupting circadian rhythms, which change naturally on a 24-hour cycle, has been implicated in heart disease, but it is unclear how it leads to the condition. A research team at Baylor College of Medicine and collaborating ...

Diseases, Conditions, Syndromes

HIIT for liver health

New research led by Western Sydney University suggests that aerobic exercise interventions incorporating either high-intensity interval training (HIIT) or moderate-intensity continuous training (MICT) are effective for improving ...

Immunology

CRISPR screen identifies new anti-inflammatory drug target

A metabolic enzyme that has been studied in cancer biology and is important for T cell function may offer a new target for anti-inflammatory therapeutics, Vanderbilt researchers have discovered. They report Nov. 11 in the ...

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Inborn error of metabolism

Inborn errors of metabolism comprise 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). 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 reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases, and these terms are considered synonymous.

The term inborn error of metabolism was coined by a British physician, Archibald Garrod (1857-1936), in the early 20th century (1908). He is known for work that prefigured the "one gene, one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism was published in 1923.

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