Article
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
American journal of human genetics - 2 Feb 2017
Anikster Yair, Haack Tobias B, Vilboux Thierry, Pode-Shakked Ben, Thöny Beat, Shen Nan, Guarani Virginia, Meissner Thomas, Mayatepek Ertan, Trefz Friedrich K, Marek-Yagel Dina, Martinez Aurora, Huttlin Edward L, Paulo Joao A, Berutti Riccardo, Benoist Jean-François, Imbard Apolline, Dorboz Imen, Heimer Gali, Landau Yuval, Ziv-Strasser Limor, Malicdan May Christine V, Gemperle-Britschgi Corinne, Cremer Kirsten, Engels Hartmut, Meili David, Keller Irene, Bruggmann Rémy, Strom Tim M, Meitinger Thomas, Mullikin James C, Schwartz Gerard, Ben-Zeev Bruria, Gahl William A, Harper J Wade, Blau Nenad, Hoffmann Georg F, Prokisch Holger, Opladen Thomas, Schiff Manuel
Abstract excerpt
Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harbor mutations in the gene encoding phenylalanine hydroxylase (PAH), and a small proportion (2%) exhibit tetrahydrobiopterin (BH4) deficiency with additional neurotransmitter (dopamine and serotonin) deficiency. Here we...
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