Homogentisic acid, also known as melanic acid, is an intermediate in the breakdown or catabolism of tyrosine and phenylalanine.
Elevated with the genetic disease homogentisic aciduria (alkaptonuria). Mild elevation may suggest carrier status.
References:
- 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
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