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Diapers may stain black when exposed due to air exposure. This is often missed by parents.

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Recessive trait. Very rare. 1 in 250,000 births. Affects HGD gene which codes for the enzyme Homogentisate 1,2-Dioxygenase. Affects males and females equally.

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What does Homogentisate 1,2-Dioxygenase do?

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What does Homogentisate 1,2-Dioxygenase do?

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This enzyme is involved in the metabolism of amino acids phenylalanine and tyrosine. During their breakdown a toxic substance, homogentisic acid, is produced. without enough Homogentisate 1,2-Dioxygenase, this molecule can't be moved to the next step and it builds up in the body.

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The affected HGD gene leads to an extreme buildup of homogentisic acid. It is 2,000 times the normal amount in someone with this disease.

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Urine is typically abnormally dark, as well as turns black when left standing in the open air for several hours.

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Mainly effects the spine. Radiographs of the spine showing flattened and calcified intervertebral discs are pathognomonic. Can lead to total fusion of the vertebral discs.

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The amount of homogentisic acid in the 24-hour urine is detected via gas chromatography-mass spectrometry (GC-MS) analysis.

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Visible buildup of acid in cartilage and eyes

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Visible buildup of acid in cartilage and eyes

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The acid has nowhere to go so it builds up in strange places. Usually doesn't start to occur until later in life (typically over 30 y/o).

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Several lab diagnoses such as biochemical, hematological, and histology. The urine test for HGA is the gold-standard test to diagnose alkaptonuria

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Buildup of homogentisic acid in cartilage

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Buildup of homogentisic acid in cartilage

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Earlies form of detection available for Alkoptonuria. Can be detected in pediatrics, but is not included in routine urinalysis unless suspected by a physician.

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Condition causes connective tissue to breakdown through the accumulation of HGA pigment oxidizing. Can lead to aortic stenosis and arthritis.

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Alkaptonuria can lead to ochronosis, where a buildup of homogentisic acid (HGA) causes pigmentation and cartilage degeneration in the knee joint. Over time, this results in chronic joint pain, stiffness, and early-onset osteoarthritis, significantly impacting mobility.

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Genetic testing can identify mutations in the HGD gene that are associated with alkaptonuria