What are the causes of Alkaptonuria?

Alkaptonuria is caused by a mutation on your homogentisate 1,2-dioxygenase (HGD) gene. It’s an autosomally recessive condition. This means that both of your parents must have the gene in order to pass the condition on to you. Alkaptonuria is a rare disease.

What do you mean by Alkaptonuria?

Alkaptonuria, or “black urine disease”, is a very rare inherited disorder that prevents the body fully breaking down two protein building blocks (amino acids) called tyrosine and phenylalanine. It results in a build-up of a chemical called homogentisic acid in the body.

How is Alkaptonuria passed?

Alkaptonuria is inherited, which means it is passed down through families. If both parents carry a nonworking copy of the gene related to this condition, each of their children has a 25\% (1 in 4) chance of developing the disease.

What causes black bone disease?

Alkaptonuria is a monogenic disease leading to an enzyme deficiency, causing the accumulation of homogentisic acid (HGA) at 2,000 times the normal rate [3]. The HGA binds to cartilage and bone and pigments, turning it black in a process called ochronosis – hence its name of Black Bone Disease.

What is the biochemistry involved in the symptoms of alkaptonuria?

Alkaptonuria is a rare genetic metabolic disorder characterized by the accumulation of homogentisic acid in the body. Affected individuals lack enough functional levels of an enzyme required to breakdown homogentisic acid. Affected individuals may have dark urine or urine that turns black when exposed to air.

What type of mutation causes alkaptonuria?

Mutations in the HGD gene cause alkaptonuria. The HGD gene provides instructions for making an enzyme called homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of proteins.

What is the biochemistry involved in the symptoms of Alkaptonuria?

Who discovered Alkaptonuria?

Sir Archibald Edward Garrod KCMG FRS (25 November 1857 – 28 March 1936) was an English physician who pioneered the field of inborn errors of metabolism. He also discovered alkaptonuria, understanding its inheritance.

Is Alkaptonuria contagious?

Alkaptonuria is inherited, which means it is passed down through families.

What causes discoloration of bones?

Finding discolored bone intraoperatively can be confusing and concerning to orthopedic surgeons. Multiple causes of pigmented bone exist, including ochronosis, metabolic bone diseases, metal deposits, sequestrum, metastatic disease, and minocycline use.

What type of disorder is alkaptonuria?

Which enzyme is lacking in alkaptonuria?

Alkaptonuria is caused by deficiency of homogentisate 1,2-dioxygenase, an enzyme that converts homogentisic acid (HGA) to maleylacetoacetic acid in the tyrosine degradation pathway.

Is alkaptonuria dominant or recessive?

United States. As Garrod suggested, alkaptonuria is an autosomal recessive genetic trait, although an autosomal dominant transmission pattern in 3 generations in a nonconsanguineous family has been reported.The true frequency of alkaptonuria cannot be given with certainty for numerous reasons.

What is the history of alkaptonuria?

History Alkaptonuria was one of the four diseases described by Archibald Edward Garrod , as being the result of the accumulation of intermediates due to metabolic deficiencies. He linked ochronosis with the accumulation of alkaptans in 1902, [4] [6] and his views on the subject, including its mode of heritance, were summarized in a 1908 Croonian Lecture at the Royal College of Physicians .