HYPERGONADOTROPIC HYPOGONADISM,
PROGRESSIVE EARLY-ONSET SPINOCEREBELLAR ATAXIA,
AND LATE-ONSET SENSORINEURAL HEARING LOSS:
CASE REPORT AND LITERATURE REVIEW Sarikaya E,1 Ensert CG,2 Gulerman HC1 *Corresponding Author: Esma Sarikaya, Centre for Reproductive Medicine, Zekai Tahir Burak Women’s
Health Research and Education Hospital, Talatpasa Bulvari Hamamonu 06230, Ankara, Turkey; Tel.: +90-312-
310-3100; Fax: +90-312-312-4931; E-mail: sudesarikaya@hotmail.com page: 77
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PROPOSED TREATMENT MODALITIES
Individuals with Refsum disease are commonly
placed on a Phyt-restricted high-calorie diet and avoid
the consumption of fats from ruminant animals and
certain fish. Recent research has shown that CYP4
isoform enzymes could help reduce the over-accumulation
of Phyt in vivo. Plasmapheresis and vitamin A
supplementation are other medical interventions used
to treat patients. Sodium 4-phenylbutyrate induces
peroxisome proliferation and improves biochemical
function (very long chain fatty acid β-oxidation rates
and very long chain fatty acid and plasmalogens levels)
in fibroblast cell lines from patients with milder
peroxisome biogenesis disorder phenotypes [57,58].
Perera et al. [59] recently proposed intestinal lipase
inhibitor, Orlistat, as a novel therapeutic approach to
Refsum disease. Leipnitz et al. [60] reported that oxidative
stress elicited in vitro by Phyt was prevented
by the antioxidants α-tocopherol and melatonin. Both
DHEA and clofibrate induce peroxisomes and theoretically
could be used in the treatment of Zellweger syndrome
and PS [61].
In the myopathic form of CoQ10 deficiency, carnitine
supplementation and a low-protein low-fat diet
were ineffective, and associated with further worsening
of symptoms. But combined CoQ10 supplementation
with riboflavin (100 mg/day), resulted in marked
and rapid improvement of symptoms. Gironi et al. [39]
also reported two brothers who had late-onset progressive
ataxia and hypergonadotropic hypogonadism associated
with muscle coQ10 deficiency improved on
high-dose CoQ10 supplementation. Although there is
no current standard treatment, the use of ascorbic acid
has been proposed for the treatment of CMT disease,
and has shown some benefit in animal models [62].
Recent studies of prospects for gene therapy that adds
the proper protein back (gene replacement) are ongoing
in many diseases such as Usher syndrome [63].
Declaration of Interest: the authors report no
conflicts of interest. The authors alone are responsible
for the content and writing of this article.
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