A rare case of isovaleric acidemia and schizophrenia: a case report

异戊酸血症合并精神分裂症罕见病例报告

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Abstract

BACKGROUND: Schizophrenia is a severe chronic mental disorder characterized by hallucinations, delusions, and disorganized speech and behavior. On the other hand, isovaleric acidemia (IVA) is a rare metabolic disorder characterized by the accumulation of isovaleric acid and its metabolic byproducts in the body. To date, there is a notable absence of clinical descriptions concerning the simultaneous occurrence of IVA and schizophrenia in the existing literature. CASE PRESENTATION: This report presents a clinical case involving the coexistence of IVA and Schizophrenia. A 25-year-old male patient diagnosed with comorbid IVA and schizophrenia was admitted to the psychiatric department due to worsening delusions and auditory hallucinations. Treatment with antipsychotics (clozapine 150 mg/day and blonanserin 24 mg/day) and metabolic agents (L-carnitine 3 g/day and reduced glutathione 1.2 g/day) reduced delusion severity, though delusions persisted, while auditory hallucinations resolved. CONCLUSIONS: In this case description, the authors describe a rare clinical case in which the patient presents with IVA and schizophrenia. This case discusses the potential pathways through which IVA may precipitate the onset of schizophrenia.

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