What is alkaptonuria?

What is 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.

What causes Ochronosis?

It is generally caused by a rare genetic disease called alkaptonuria. People with this disease have a deficiency in an enzyme called homogentisic acid oxidase which allows the build-up of certain substances that eventually deposit in connective tissue found throughout the body.

Is Alkaptonuria autosomal recessive?

Alkaptonuria is inherited as an autosomal recessive trait. Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent.

What causes Blackbones?

Ochronosis, which is a result of deposition of black homogentisic acid in the bone, cartilage and synovial membrane of joints is most often associated with alkaptonuria, a recessive hereditary disease caused by a complete defect of homogentisic acid oxidase.

Is phenylketonuria and alkaptonuria same?

Alkaptonuria is a recessive genetic deficiency resulting in the incomplete oxidation of tyrosine and phenylalanine, causing increased levels of homogentisic (or melanic) acid. It is also known as phenylketonuria and ochronosis.

What does ochronosis look like?

Ochronosis is an uncommon disorder characterized by a clinical appearance of blue-black or gray-blue pigmentation, which reflects the histological finding of yellow-brown deposits in the dermis. [2] It most commonly affects the skin and sometimes the cartilages of ears and sclera of eyes.

Can ochronosis be cured?

Ochronotic arthropathy is treated with physiotherapy, analgesia, rest, and prosthetic joint replacement when necessary. Exogenous ochronosis caused by topical hydroquinone use has been treated successfully with picosecond laser.

What makes urine black?

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.

What causes phenylketonuria?

PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine. Without the enzyme necessary to process phenylalanine, a dangerous buildup can develop when a person with PKU eats foods that contain protein or eats aspartame, an artificial sweetener.

Can you develop PKU later in life?

Although it is principally a childhood disorder, in rare cases, the first signs of PKU may develop in late adulthood resembling common neurological diseases.