Mild non-BH4-deficient hyperphenylalaninemia

Metabolic disorder From Wikipedia, the free encyclopedia

Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is a rare metabolic disorder characterized by mild hyperphenylalaninemia (HPA) and a range of variable neurologic symptoms, including movement abnormalities and intellectual impairment. HPANBH4 has an autosomal-recessive pattern of inheritance.

Causes

The disorder is caused by homozygous and compound heterozygous mutations in the DNAJC12 gene, which encodes a molecular chaperone belonging to the DnaJ/HSP40 family of proteins.^{[citation needed]}

History

Mild non-BH4-deficient hyperphenylalaninemia was first reported in 6 patients from 4 unrelated consanguineous families by a large group of researchers in 2017.^[1]^[2]

Alternative names

DNAJC12 deficiency^{[citation needed]}

References

External links

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