Hyperphenylalaninemia due to DNAJC12 deficiency

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Hyperphenylalaninemia due to DNAJC12 deficiency

Synonyms: Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia

A rare inborn error of metabolism characterized by increased serum phenylalanine associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability dystonia and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Hyperphenylalaninemia due to DNAJC12 deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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