Arilsülfataz A eksikliğinin psikiyatrik bulgularla ilişkisi

Amaç: Arilsülfataz A eksikliği çocuk ve ergende bir çok psikiyatrik ve nörolojik heterojen tabloya yol açabilen bir metabolizma bozukluğudur. Bu yazının amacı yapılan araştırmalar sonucunda bu enzim eksikliği saptanmış olanlarda görülen psikiyatrik belirtileri ve bu durumun psikiyatrik bozukluklarla ilişkisini gözden geçirmektir. Yöntem: Bu yazıda arilsülfataz A eksikliğinin yol açtığı başlıca hastalıklar, psikiyatrik bulgular ve nöropsikolojik test sonuçlarını içeren makale ve kitaplar gözden geçirilerek elde edilen veriler özetlenmiştir. Bulgular: Enzimin eksikliği çocukluk çağının başlıca dismiyelinizan hastalığı olan metakromatik lökodistrofi yanı sıra değişik oranlarda psikoz, demans ve öğrenme güçlüğü tablolarına da yol açabilmektedir. Bu çeşitlilik nedeniyle moleküler, biyokimyasal, genetik, nörolojik, radyolojik ve psikiyatrik araştırmalara konu olmuştur. Erişkinlerde yapılan çalışmalar çelişkili sonuçlar vermiştir. Çocukluk çağı demanslan, ergenlik ve erken erişkinlikteki psikoz ve psikoz benzeri tabloların ayırıcı tanısında laboratuar incelemesi olarak göz önünde bulundurulmalıdır. Bu enzim eksikliğinin yaygın gelişimsel bozukluklar ve öğrenme güçlükleri gibi güncel tablolarla da ilişkisi olduğu izlenimi edinilmiştir. Tartışma: Arilsülfataz A eksikliğinin psikiyatrik bozukluklarla ilişkisini ortaya koymak üzere yapılan çalışmalarda geniş taramalar yapılmaması, nörolojik belirtilerin vurgulanması ve tam ölçütlerinin standardize edilmemesi önemli sorunlardır. Gelecekte yaygın gelişimsel bozukluk, Asperger bozukluğu ve mental retardasyon gruplarında çok yönlü olarak yapılacak çalışmalar çocuk ve ergenlerde metabolik etyolojilerin saptanmasında yol gösterecek ve Bzyopatolojik mekanizmaların daha iyi anlaşılmasında yardımcı olacaktır.

The relationship of arylsulfatase A deficiency to psychiatric findings

Objective: Arylsulfatase A deficiency is a metabolic disorder capable of producing a wealth of psychiatric and neurologic diseases in children and adolescents. The aim of this paper is to review the psychiatric findings seen in this deficiency and its relationship to psychiatric disorders. Method: Selected papers and books regarding to diseases caused by arylsulfatase A deficiency, psychiatric findings and neuropsychological tests are reviewed and the consequences are summarised. Results: Deficiency of this enzyme may lead to metachromatic leukodystrophy, the principal dysmyelinating disease of childhood as well as psychosis, dementia and learning disabilities in variable frequency. Due to this heterogenity molecular, biochemical, genetic, neurological, radiological and psychiatric investigations are made. Conflicting findings are reported in adults. This deficiency should be borne in mind in the laboratory investigations of cases of childhood dementia and psychosis like presentations in adolescents and young adults. It is possibly related with pervasive developmental disorders and learning disabilities. Conclusion: Investigations up to date are handicapped by lack of large, screening procedures, highlighting neurological findings and varied diagnostic criteria. Future research in groups of pervasive developmental disorders, Asperger syndrome and mental retardation in children and adolescents using various investigational tools in a collaborative manner will help us to understand this relationship better.

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