Homogentisic (Males Age 13 and Over)

- Homogentisic acid is elevated in the genetic disorder, homogentisic aciduria (alkaptonuria).

- Slight increases may indicate the heterozygous genetic carrier state of the disease.

Possible causes:

- Impaired metabolism due to cofactor insufficiency (iron, vitamin C, 02)

- Chronically high levels of homogentisic acid are associated with alkaptonuria, an inborn error of metabolism. Alkaptonuria is a rare inherited genetic disorder in which the body cannot process the amino acids phenylalanine and tyrosine.

Additional investigations:

- Iron studies

Treatment considerations:

- Supplement iron if low

- Vitamin C

- Improve oxygenation

Homogentisic acid is a breakdown product of 4-Hydroxyphenylpyruvic Acid (4-HPPA). 

Elevated in the genetic disease homogentisic aciduria (alkaptonuria).