hawkinsinuria


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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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En el caso de la tirosinemia, esta puede ser de varios tipos: tipo I (hepatorenal), tipo II (oculocutanea), tipo III, alcaptonuria o Hawkinsinuria, que son causadas por desordenes geneticos de diferentes enzimas de la ruta metabolica de la tirosina.
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 elevated urinary excretion of pyroglutamic acid in our patient raises the possibility of hawkinsinuria. Hawkinsinuria is a rare disorder of tyrosine metabolism.
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].
Hawkinsinuria: identification of kinolacetic acid and pyroglutamic acid during an acidotic phase.