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ADULT ONSET C ITRULLINEMIA TYPE 2 PRESENTING AS A CASE OF SCHIZOAFFECTIVE DISORDER. CASE REPORT FROM OMAN

Journal: Indian Journal of Medical Research and Pharmaceutical Sciences (Vol.3, No. 2)

Publication Date:

Authors : ; ; ; ;

Page : 4-7

Keywords : Adult onset citrullinemia type II; neuropsychiatric manifestations; schizoaffective disorder; Oman.;

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Abstract

Adult onset citrullinemia type II is an autosomal recessive disorder of amino acid metabolism caused by a deficiency of liver specific arginino - succinate - synthetase - activity 1 . Cases reported in the literature are few and most of them were from Japan. The adult onset variant is known to present with neuropsychiatric manifestations . The authors report a case of a 30 year old Omani woman who presented with unusual episodic symptoms that mimicked s chizoaffective disorder . The p atient was admitted under psychiatry initially . R outine investigations were sen t along with Elect roencephalography which showed continuous epil e ptiform discharges. Neurology and genetic disorders team s were consulted . A fter through investigations , the case was diagnosed as adult onset citrullinemia type II . . S uch case s necessitate s a low threshold for ruling out organic causes in patients presenting with psychiatric symptoms

Last modified: 2016-01-29 20:01:26