hyperphenylalaninemia due to DNAJC12 deficiency
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}).
MONDO:0009861
phenylketonuria
excluded_subClassOf
MONDO:0004736
inborn disorder of amino acid metabolism
is_a
MONDO:0006025
autosomal recessive disease
is_a
HPANBH4
related
hyperphenylalaninemia due to DNAJC12 deficiency
exact