Hawkinsinuria

Disease Overview

Hawkinsinuria is an inherited disorder, characterized by the inability to break down the amino acid tyrosine. This results in the finding of certain amino acids in the urine, such as hawkinsin. The features of this condition usually appear around the time infants are weaned off breast milk and begin to use formula. The signs and symptoms may include: failure to gain weight and grow at the expected rate (failure to thrive), abnormally high acid levels in the blood (acidosis), and fine or sparse hair.[13134][13135][13137] Hawkinsinuria is caused by mutations in the HPD gene and is inherited in an autosomal dominant manner. Treatment may include dietary supplements or restrictions.[13134][13137] 

Synonyms

• 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency