The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.
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All Diseases > DNAJC12 Deficiency
DNAJC12 Deficiency (DNAJC12 Deficiency)
Disease Category: Phenylketonuria
An inherited disorder causing high blood levels of the amino acid phenylalanine. The defective chaperone protein cannot properly fold the phenylalanine hydroxylase (PAH) enzyme, which then cannot effectively break down phenylalanine. When not treated, symptoms include autistic features, hyperactivity, intellectual disability, dystonia (involuntary muscle contractions), and parkinsonism.
Research groups studying this disease
Phenylalanine Families and Researchers Exploring Evidence (PHEFREE)
A collaboration of phenylketonuria (PKU) community members joining together as a national voice and supporting local efforts to raise PKU awareness and drive advocacy and education, while ultimately looking for a cure.