You don't need to be signed in to read BMJ Blogs, but you can register here to receive updates about other BMJ products and services via our site.

Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability

9 Aug, 17 | by hqqu

Hyperphenylalaninemia is one of the most common inherited metabolic diseases diagnosed in the newborn screening and until now follow-up investigation included differential diagnosis of phenylketonuria (PKU) and tetrahydrobiopterin (BH4) deficiency. With the description of patients with biallelic variants in co-chaperone DNAJC12 (van Spronsen et al 2017), the paradigm of hyperphenylalaninemia needs reconsideration. DNAJC12-deficient patients may present initially without any symptoms, with only mild attention deficit or with a severe intellectual disability, and need immediate and appropriate treatment (BH4, l-dopa/Carbidopa and 5-hydroxytryptophan). Thus, every newborn with hyperphenylalaninemia, in which PKU and BH4 deficiency were excluded need to be tested for DNAJC12 variants. (By Prof. Dr. Beat Thöny, )

By submitting your comment you agree to adhere to these terms and conditions
You can follow any responses to this entry through the RSS 2.0 feed.
JMG blog homepage

JMG Contact

Research developments and evidence-based medical genetics. Visit site

Creative Comms logo

Latest from Journal of Medical Genetics

Latest from Journal of Medical Genetics