Alkaptonuria is a metabolic disorder which can be identified by the accumulation of hemogenetistic acid in the body. This leads to dark urine, pigmentation of connective tissues, arthritis in the spine and joints, and the destruction of the cardiac valves.
Scientist 1: Sir Archibald Edward Garrod (1857-1936)
Sir Archibald Edward Garrod, born on November 25 1857 from London, United Kingdom. He was an English physician who explored the field of inborn errors of metabolism. When Garrod was studying alkaptonuria, he collected information from his patients and discussed his findings with Mendel advocate William Bateson. From his findings and discussion with Bateson, Garrod concluded that alkaptonuria is a recessive disorder. He published these findings in the form of a book called “the inborn errors of metabolism” in 1909.
Causes
This recessive disorder is caused by a mutation of the homogentisate 1,2-dioxygenase (HGD) gene (which is an enzyme that is involved in the catabolism of the amino acids tyrosine and phenylalanine). Due to this, a substance called homogentisic acid accumulates in the skin and other tissues in the body. The acid, then leaves the body through urine. When the urine is exposed to air it turns dark brown or black. Since alkaptonuria is a recessive disorder, it …show more content…
The earliest sign of alkaptonuria would be dark stains on a diaper, the colour would be a dark purple. During adulthood (20-30), symptoms become more obvious. When exposed to air, urine may turn black or a dark brown and signs of early-onset osteoarthritis may begin to show. Some people may not know of the condition by the age of 40. Other symptoms include: dark spots in the whites of the eyes, thickened and darkened cartilage of the ears, blue speckled discoloration of the skin, particularly around sweat glands, dark-colored sweat or sweat stains, black earwax, kidney stones and prostate stones, and arthritis (especially hip and knee
Scientist 1: Sir Archibald Edward Garrod (1857-1936)
Sir Archibald Edward Garrod, born on November 25 1857 from London, United Kingdom. He was an English physician who explored the field of inborn errors of metabolism. When Garrod was studying alkaptonuria, he collected information from his patients and discussed his findings with Mendel advocate William Bateson. From his findings and discussion with Bateson, Garrod concluded that alkaptonuria is a recessive disorder. He published these findings in the form of a book called “the inborn errors of metabolism” in 1909.
Causes
This recessive disorder is caused by a mutation of the homogentisate 1,2-dioxygenase (HGD) gene (which is an enzyme that is involved in the catabolism of the amino acids tyrosine and phenylalanine). Due to this, a substance called homogentisic acid accumulates in the skin and other tissues in the body. The acid, then leaves the body through urine. When the urine is exposed to air it turns dark brown or black. Since alkaptonuria is a recessive disorder, it …show more content…
The earliest sign of alkaptonuria would be dark stains on a diaper, the colour would be a dark purple. During adulthood (20-30), symptoms become more obvious. When exposed to air, urine may turn black or a dark brown and signs of early-onset osteoarthritis may begin to show. Some people may not know of the condition by the age of 40. Other symptoms include: dark spots in the whites of the eyes, thickened and darkened cartilage of the ears, blue speckled discoloration of the skin, particularly around sweat glands, dark-colored sweat or sweat stains, black earwax, kidney stones and prostate stones, and arthritis (especially hip and knee