| 单词 | hawkinsinuria |
| 释义 | hawkinsinuriahawkinsinuriaAn 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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