a deficiency of thiamin causes a disorder called
Thiamine deficiency Thiamine deficiency, also known as beriberi, is a condition that occurs due to not enough thiamine (vitamin B1).[1] There are two main types: wet beriberi, and dry beriberi.[1] Wet beriberi results in a fast heart rate, shortness of breath, and leg swelling.[1] Dry beriberi results in numbness of the hands and feet, confusion, trouble moving the legs, and pain.[1] A form with loss of appetite and constipation may also occur.[3]
Inborn errors of metabolism Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism.[1] 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 disorders.[2] The term inborn errors of metabolism was coined by a British physician, Archibald Garrod (1857â€“1936), in 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.[3]