(Figure 2.36A) - AR, mutation of PAHX (PHYH) gene (peroxisomal phytanolyl-CoA hydroxylase) or PEX7 gene (biogenesis factor 7) → excessive accumulation of phytanic acid
- Presents at childhood/adolescence with variable symptoms but typically mild ichthyosis (like ichthyosis vulgaris), cerebellar ataxia, peripheral neuropathy, “salt and pepper” retinitis pigmentosa, deafness • Infantile Refsum (onset at birth): mutation in PEX1, PEX2, or PEX26
- Treat with dietary restriction of phytanic acid
| | | | | | Ref SUM – REtinis pigmentosa, SOME salt and pepper please | | | | | |
|
| | Figure 2.36
A: Retinitis pigmentosa
(Reprint from Hoffman GF,
Zschocke J, Nyhan WL.
Inherited Metabolic Diseases.
Berlin: Springer; 2010)
B: Darier disease
(Courtesy of Dr. Paul Getz)
C: Darier disease
(Courtesy of Dr. Paul Getz) |
|
