Cardiology

Can you still be healthy if you're overweight?

(HealthDay)—If you're overweight but have dodged chronic health issues like high cholesterol and high blood pressure, you might not think that losing weight is a priority. But an analysis of five years of records on 3.5 ...

Cardiology

Diabetes medication shows potential to reduce heart disease

A new study from St. Michael's Hospital in Toronto, Canada shed lights on how a class of medications that help regulate blood sugar for patients with Type 2 diabetes can also protect against heart disease.

Diseases, Conditions, Syndromes

3-D miniature livers lead the way to patient-specific drug discovery

The human liver is a vital organ involved in multiple functions. Because susceptibility to liver diseases is highly variable among patients, researchers from Tokyo Medical and Dental University (TMDU) and Cincinnati Children's ...

Cardiology

'Tickle' therapy could help slow ageing

'Tickling' the ear with a small electrical current appears to rebalance the autonomic nervous system for over-55s, potentially slowing down one of the effects of ageing, according to new research.

Pediatrics

Growth failure in preterm infants tied to altered gut bacteria

Extremely premature infants who fail to grow as expected have delayed development of their microbiome, or communities of bacteria and other micro-organisms living in the gut, according to a new study published in Scientific ...

Diabetes

Tiny change has big effects, reverses prediabetes in mice

A small chemical change—shifting the position of two hydrogen atoms—makes the difference between mice that are healthy and mice with insulin resistance and fatty liver, major risk factors for diabetes and heart disease. ...

page 1 from 23

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.

This text uses material from Wikipedia, licensed under CC BY-SA