Question

The concept of an ‘inborn error of metabolism’ was the first recognition of the relationship between gene activity and metabolic disease, made by ______.

पर्याय

• Beadle and Tatum with parasitic molds.

• Pauling and ltano with sickle-cell anaemia.

• Archibold Garrod from general family inheritance patterns.

• Watson and Crick, as a natural outcome of their model of DNA.

Answer 1

The concept of an ‘inborn error of metabolism’ was the first recognition of the relationship between gene activity and metabolic disease, made by Archibold Garrod from general family inheritance patterns.

Explanation:

The term “inborn error of metabolism” was first coined in 1908 by the British physician Sir Archibald Garrod. He arrived at this concept by studying patients with rare conditions like alkaptonuria, where the urine turns black upon exposure to air. By observing the recurrence of these traits within families, Garrod was the first to recognise that such diseases followed Mendelian inheritance patterns. He proposed that these individuals were born with a “missing step” in their chemical pathways due to a defective enzyme, effectively linking genes to specific biochemical processes long before the molecular structure of DNA was known.