hawkinsinuria


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hawkinsinuria

/haw·kin·sin·u·ria/ (haw″kin-sin-u´re-ah) a rare form of tyrosinemia with urinary excretion of hawkinsin, a cyclic amino acid metabolite of tyrosine.

hawkinsinuria

An AD form of tyrosinuria, named after the index family, which presents in infancy with severe metabolic acidosis, ketosis, FTT, transient tyrosinemia, ↑ excretion of p-hydroxyphenylpyruvic and p-hydroxyphenylacetic acids as well as unusual tyrosine metabolites, one of which is hawkinsin Management Restrict phenylalanine and tyrosine in diet–resolves spontaneously with age without mental retardation or hepatopathy. See Failure to thrive.
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Other compounds may also be quite specific, including 3-hydroxyglutarate for glutaric aciduria type I, mevalonic acid for mevalonic aciduria, N-acetylaspartate for Canavan disease, 4-hydroxycyclohexylacetate for hawkinsinuria, and 2-ketoadipate and 2-hydroxyadipate for 2-amino/2-ketoadipate aciduria.
Elevated levels of pyroglutamic acid are not typically described in patients with alkaptonuria but may occur in hawkinsinuria.
The latter cases have been associated with a variety of conditions and disorders: urea cycle disorders [4]; propionic acidemia [5]; hawkinsinuria 16]; Stevens-Johnson syndrome and severe burns [7]; homocystinuria [8]; pre-maturity [9]; glycine deficiency [10]; patients on artificial diets [11]; and drug treatment with acetaminophen (paracetamol) [12] and vigabatrin [13].