Roughly one million people die of untreated kidney failure, worldwide, each year. Despite the major personal and economic burden, only a few new approaches have been deployed to treat or cure kidney disease over the last ...
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Depression is widely reported to be more common in women than in men, with women twice as likely to receive a diagnosis than men. A new sex-specific study from McGill University has found that there are differences between ...
Mar 15, 2023
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Every minute of every day, our body adapts to meet the needs of each moment. When we binge on carbs, exercise, or become sick, chemical reactions inside our cells switch on, slow down, or shift strategy so that we have the ...
Mar 14, 2023
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UVA Health researchers have identified a potential treatment to prevent severe COVID-19 in patients at great risk.
Mar 13, 2023
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A study conducted by the Centers for Disease Control and Prevention (CDC) from 2009 to 2017 determined that approximately 1 in 44 children ages 3-17 are diagnosed with some form of autism spectrum disorder (ASD). Research ...
Mar 10, 2023
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Scientists from the Trinity Biomedical Sciences Institute (TBSI) have shed new light on aging processes in the brain. By linking the increased presence of specialized immune cells to conditions such as Alzheimer's disease ...
Mar 8, 2023
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Researchers at the National University in Singapore and colleagues in the US and China undertook a two-decade metabolic analysis of Global Burden of Disease (GBD) reports. They have published their findings in the journal ...
New research led by investigators at Massachusetts General Hospital (MGH), a founding member of Mass General Brigham (MGB), indicates that socioeconomic and genetic factors likely interact in an additive way to affect people's ...
Mar 7, 2023
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Getting tested for levels of HDL (the good) and LDL (the bad) cholesterol is part of the annual physical exam. But emerging research is showing that these standard tests may not be the most accurate way to test for heart ...
Mar 6, 2023
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Obesity continues to become more common worldwide, despite the health risks and increased mortality posed by the diseases and conditions that accompany it (comorbidities). Although obesity's comorbidities (such as diabetes) ...
Mar 2, 2023
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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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