hawkinsinuria

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hawkinsinuria2016-11-26T01:41:34+00:00

hawkinsinuria

METABOLISM

Definition An autosomal dominant form (OMIM:140350) of tyrosinuria, a metabolic disorder, which was named after the index family, the Hawkins

Clinical findings Presents in infancy with severe metabolic acidosis, ketosis, failure to thrive, transient tyrosinemia, increased 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

Molecular pathology Defects of HPD, which encodes an enzyme that plays a role in tyrosine breakdown, cause hawkinsinuria.

Synonym 4-hydroxyphenylpyruvate hydrolase deficiency  

References http://www.uniprot.org/uniprot/P32754

http://www.omim.org/entry/140350

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