Master Alkaptonuria with Picmonic for Medicine

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Alkaptonuria, also known as ochronosis, is an autosomal recessive metabolic disorder caused by a defect in the enzyme homogentisic acid oxidase. This enzyme participates in the degradation of tyrosine to fumarate. As a result of the enzyme deficiency, a toxic tyrosine byproduct called homogentisic acid accumulates in the blood and is excreted in large amounts in the urine. Excessive amounts of homogentisic acid is harmful to cartilage leading to severe and debilitating arthritis. Alkaptonuria can also cause darkening of connective tissue in sun exposed areas and around sweat glands. Urine may also turn black if collected and left exposed to open air for a long period of time.

7 KEY FACTS

This metabolic disorder is inherited in an autosomal recessive fashion.

Homogentisic acid oxidase is an enzyme that metabolizes homogentisic acid into 4-maleylacetoacetate.

This enzyme participates in the metabolism of tyrosine to fumarate.

Excessive amounts of homogentisic acid is harmful to cartilage, leading to severe and debilitating arthritis.

Alkaptonuria can cause darkening of connective tissue in sun exposed areas and around sweat glands. This is because the accumulated homogentisic acid causes pigmented deposits in connective tissues throughout the body.

Urine can turn black if collected and left exposed to open air for a long period of time in alkaptonuria.

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