Conduct disorder and hyperprolinemia type I: A case report

Introduction Hyperprolinemia is defined by high proline levels of blood and its primary type consists on a metabolic disorder that the result number different genetic defects affecting degradation proline. The complex relationship between this disease psychiatric phenotypes has been an important subject study in recent years, suggesting “common phenotype” (Namavar et al. Am J Med Genet B Neuropsychiatr 2021; 186(5), 289-317), though exact characteristics are yet to be determined. A higher prevalence psychotic disorders (Guo Metab Brain dis 2018; 33 89-97) explained through altered glutamate metabolism, autism spectrum disorders, developmental delay intellectual disability proposed. Objectives To describe case patient, recently diagnosed hyperprolinemia I, presenting conduct alongside with ADHD, oppositional defiant unspecified pervasive disorder. Methods We present 15-year-old male received follow-up care our mental health services. patient was born preterm (35+5 weeks) required reanimation, oxygen therapy, antiretroviral therapy (biological mother HIV positive) pharmacological phenobarbital (in order treat methadone withdrawal syndrome). It adopted nationally when he 18-month-old experimented adequate development during his first only highlighting slight psychomotor restlessness distinctive facial features. During next receives diagnosis ADHD (with little no registered response amphetamine derivatives), disorder, social pragmatic communication fetal alcohol syndrome. Results hospital admission, neuropediatrician contacted recommended for screening done, where were detected (940.1μmol/L). After this, procedure massive exome sequencing genes known related alterations metabolism conducted, finding mutation c.[1357C>T] gen PRODH. This translates amino acid replacement protein dehydrogenase (p.[Arg453Cys]; [Arg453Cys]), which studied (Bender Hum 2005; 76 409–420) it reduced activity 70%, making very probable cause hyperprolinemia. Conclusions There still scarce evidence presented patients Further research needed accurately define effect central nervous system. Disclosure Interest None Declared