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Article

Variant analysis of HPD genes from two families showing elevated tyrosine upon newborn screening by tandem mass spectrometry (MS/MS).

Journal of pediatric endocrinology & metabolism : JPEM - 28 Apr 2020

Zhao Dehua, Tian Yuan, Li Xiaole, Ni Min, Zhu Xinyun, Jia Liting

Abstract excerpt

Background Alterations in the structure and activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) are causally related to two different metabolic disorders: recessively inherited tyrosinemia type III and dominantly inherited hawkinsinuria. The aim of this study was to provide a new perspective for the clinical understanding of the pathogenesis of tyrosinemia type III or hawkinsinuria. Case presentation A...

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Identifiers

PMID: 32109208
DOI: 10.1515/jpem-2019-0498

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