Errores congénitos del metabolismo y neuropsiquiatría: revisión bibliográfica a propósito de un caso

Abstract

Objectives

The purpose of this article is to review the available literature that links inborn errors of metabolism (IEM) with neuropsychiatry, highlighting some guiding points to facilitate suspicion, diagnosis, and treatment.

Case report

We describe the case of a male patient who was admitted to the psychiatric ward of a general hospital for presenting atypical psychiatric symptoms. He received treatment with valproic acid (VPA) and developed toxicity together with persistent adverse effects, which lasted even after the drug was withdrawn. Through different blood and urine analyses, it was possible to identify a state of chronic hyperammonemia. Together with the patient's clinical presentation, this result led to the presumptive diagnosis of a metabolic disease related to a urea cycle disorder.

Results

IEM can be suspected in young people or adults when they have a positive family history of the disease or when there is the presence of psychiatric symptoms together with neurological, cognitive, or motor signs.

Conclusions

IEMs represent a group of genetic diseases in which early diagnosis and treatment can improve the morbidity and mortality of affected patients.