Genetics

Researchers discover a new form of hereditary osteoporosis

A research group headed by Professor Outi Mäkitie, University of Helsinki, identified in families with childhood-onset osteoporosis disease-causing mutations in a gene that had previously not been connected with the skeletal ...

Cardiology

Managing young women at high risk of heart disease

Deaths from heart disease have decreased in recent decades, but these decreases have not occurred in women younger than 50. A new review in CMAJ (Canadian Medical Association Journal) provides guidance for physicians to identify ...

Genetics

Two independent mechanisms are involved in tuberous sclerosis

The current idea about how tuberous sclerosis occurs places mTORC1, a protein complex that regulates cell metabolism, as the major driving force behind the disease. But according to a new study published in the Proceedings ...

Alzheimer's disease & dementia

HBOT showed improvement in Alzheimer's disease

Dr. Paul Harch, Clinical Professor and Director of Hyperbaric Medicine at LSU Health New Orleans School of Medicine, and Dr. Edward Fogarty, Chairman of Radiology at the University of North Dakota School of Medicine, report ...

Immunology

Energizing the immune system to eat cancer

Immune cells called macrophages are supposed to serve and protect, but cancer has found ways to put them to sleep. Now researchers at the Abramson Cancer Center of the University of Pennsylvania say they've identified how ...

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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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