Major Depression and Fabry Disease: A Case Report

Fabry disease is a genetic lysosomal storage disease which affects several organs. The main defect is absence of alpha galactosidase enzyme activity. Kidney, central nervous system, cardiovascular system, and ocular system are the main influenced systems, but neuropsychiatric symptoms may develop in...

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Bibliographic Details
Published in:Journal of clinical research in pediatric endocrinology 2017-06, Vol.9 (1), p.8
Main Authors: Zeynel Abidin Sayıner, Eraydın, Ayten, Tabur, Suzan, Özkaya, Mesut, Akarsu, Ersin, Araz, Mustafa
Format: Article
Language:English
Subjects:
Case reports
Enzymes
Mental depression
Mutation
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Summary:Fabry disease is a genetic lysosomal storage disease which affects several organs. The main defect is absence of alpha galactosidase enzyme activity. Kidney, central nervous system, cardiovascular system, and ocular system are the main influenced systems, but neuropsychiatric symptoms may develop in some cases. Current studies showed that psychiatric symptoms may be seen in both genders apart from neurological ones. A 22-year-old female patient with history of two suicide attempts was consulted from psychiatry clinic. Her father had Fabry disease. He had renal transplantation and his enzyme level is low 3.2 nmol/mg/h (normal range >30). GLA gene mutation analysis revealed that he had p.G261D (c.782G>A) heterozygote mutation. Enzyme replacement treatment was administered (agalsidase alfa). His daughter had flushing in her face and she could not sweat. Plenty angiokeratoma were found on her body. Eye examination was normal and there was no cardiac pathology. The same mutation was detected. Enzyme replacement therapy has been started. Despite the fact that Fabry disease is an X-linked disorder, several female heterozygote mutation carriers have distinct clinical symptoms. Our patient does not have any major characteristics of Fabry disease, but she presented with major depression and angiokeratoma besides she had heterozygote mutation. In the literature, few mutation cases especially in men were associated with depression; however, no data found for women. It is well-known that mutation and phenotype relation is very important to predict the prognosis of the illness. It should be kept in mind that heterozygote mutation of p.G261D (c.782G>A) may be related with depression with female patients.
ISSN:1308-5727
1308-5735