- Source: Mild non-BH4-deficient hyperphenylalaninemia
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.
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.
Alternative names
DNAJC12 deficiency
References
External links
Hyperphenylalaninemia, mild, non-BH4-deficient - OMIM entry for the disease.
Kata Kunci Pencarian:
- Mild non-BH4-deficient hyperphenylalaninemia
- Hyperphenylalaninemia
- Tetrahydrobiopterin deficiency
- Phenylketonuria
- Dnaj heat shock protein family (hsp40) member c12
- List of OMIM disorder codes
