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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
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