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

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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