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DNACJ12 deficiency in patients with unexplained hyperphenylalaninemia: two new patients and a novel variant.

Metabolic brain disease - 1 Aug 2021

Çıkı Kısmet, Yıldız Yılmaz, Yücel Yılmaz Didem, Pektaş Emine, Tokatlı Ayşegül, Özgül R Köksal, Sivri H Serap, Dursun Ali

Abstract excerpt

In addition to tetrahydrobiopterin deficiencies and phenylalanine hydroxylase deficiency (phenylketonuria) due to PAH variants, the deficiency of the co-chaperone protein DNAJC12 was identified in 2017 as a novel cause of inherited hyperphenylalaninemia, revealing the genetic etiology in previously unresolved cases. In this study, we aimed to investigate DNAJC12 deficiency in non-tetrahydrobiopterin-deficient...

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PMID: 34014443
DOI: 10.1007/s11011-021-00753-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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