Mild non-BH4-deficient hyperphenylalaninemia explained
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.[1] [2]
External links
Alternative names
Notes and References
- Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MC, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M . Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability . American Journal of Human Genetics . 100 . 2 . 257–266 . February 2017 . 28132689 . 5294665 . 10.1016/j.ajhg.2017.01.002 .
- Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O . Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies . Orphanet Journal of Rare Diseases . 15 . 1 . 126 . May 2020 . 32456656 . 7251883 . 10.1186/s13023-020-01379-8 . free .
