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hyperphenylalaninemia due to DNAJC12 deficiency

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by {1:Anikster et al., 2017}).
Uniprot Description An autosomal recessive disorder characterized by increased serum phenylalanine, normal BH4 metabolism, and highly variable neurologic defects, including movement abnormalities and intellectual disability.
Mondo Term and Equivalent IDs
MONDO:0044304:  hyperphenylalaninemia due to DNAJC12 deficiency
Orphanet:508523: 
UMLS:C4479270: