Hawkinsinuria

Hawkinsinuria, is an autosomal dominant metabolic disorder affecting the metabolism of tyrosine.Normally, the breakdown of the amino acid tyrosine involves the conversion of 4-hydroxyphenylpyruvate to homogentisate by 4-Hydroxyphenylpyruvate dioxygenase. Complete deficiency of this enzyme would lead to tyrosinemia III. In rare cases, however, the enzyme is still able to produce the reactive intermediate 1,2-epoxyphenyl acetic acid, but is unable to convert this intermediate to homogentisate. [Source: Wikipedia ]

Synonyms
4-alpha-hydroxyphenylpyruvate hydroxylase deficiency
OrphaNet reference
Hawkinsinuria 
May Cause
Alopecia
Edema
Hypotonia