Alkaptonuria is a rare inherited genetic disease which is caused by a mutation in the HGD gene for the enzyme homogentisate 1,2-dioxygenase (EC 1.13.11.5); if a person inherits an abnormal copy from both parents (it is a recessive condition), the body accumulates an intermediate substance called homogentisic acid in the blood and tissues.

May 19, 2023 · Alkaptonuria is a rare genetic disorder that causes homogentisic acid to build up in your body. Learn about the symptoms, causes, and treatment.

May 9, 2003 · The three major features of alkaptonuria are dark urine or urine that turns dark on standing, ochronosis (bluish-black pigmentation in connective tissue), and arthritis of the spine and larger joints. Ochronosis generally occurs after …

Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. The three major features of Alkaptonuria are the presence of dark urine, ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, and …

Aug 8, 2023 · Alkaptonuria is a rare genetic inborn error of protein metabolism. It is the result of the deficiency of an enzyme (homogentisate 1,2 dioxygenase - HGD), leading to the accumulation of homogentisic acid in connective tissue leading to ochronosis. Most of the time, diagnosis is delayed as the patient remains asymptomatic during childhood.

Alkaptonuria (AKU) is a rare autosomal recessive disorder with a global incidence of 1 in 250 000 to 1 million people worldwide. It results from a deficiency of the enzyme homogentisic acid (HGA) oxidase which when absent, leads to an accumulation of HGA.

Oct 10, 2023 · Alkaptonuria is a rare disease that illustrates how a single gene mutation can have profound effects on the body. While not life-threatening, Alkaptonuria can lead to osteoarthritis and other diseases at earlier ages, which can greatly detract from the quality of life.

Apr 24, 2023 · Alkaptonuria is a rare condition in which a person's urine turns a dark brownish-black color when exposed to air. Alkaptonuria is part of a group of conditions known as an inborn error of metabolism.

Jun 26, 2017 · Alkaptonuria is a genetic disorder, and urine that turns dark is present from birth. However, additional symptoms usually do not appear until adulthood. Symptoms are generally slowly progressive. The urine of individuals with alkaptonuria may be abnormally dark or it may turn black upon long-standing exposure to the air.

May 9, 2003 · Alkaptonuria is an inherited condition that causes urine to turn black when exposed to air. Ochronosis, a buildup of dark pigment in connective tissues such as cartilage and skin, is also characteristic of the disorder.