Article

Novel HPD mutation causes A new transient form of Hawkinsinuria? Case report

2023-09-26

Abstract excerpt

<h4>Background: </h4> Hawkiniuria is a rare group of autosomal dominant tyrosine metabolic diseases, usually caused by HPD gene mutations. So far, only a few cases of Hawkiniuria have been reported due to HPD gene mutations, and clinical symptoms usually resolve spontaneously around the age of 1 year. Case report Dizygotic twins were screened in 4 days old for inherited metabolic diseases using gas chromatography...

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Literature Corpus work: d23703d9-52db-581f-9603-d1ca65b2524f
DOI: 10.21203/rs.3.rs-3251705/v1

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