A case of late-onset cobalamin C deficiency with psychotic symptoms
10.3760/cma.j.cn113661-20231026-00158
- VernacularTitle:伴有精神病性症状的晚发型钴胺素C缺陷病1例
- Author:
Jiashu MA
1
;
Xianbiao SU
;
Fengxia SUN
;
Tantan MA
;
Zhongbao WANG
;
Jing LI
;
Ludong BAI
;
Ranran LI
Author Information
1. 济宁医学院精神卫生学院，济宁 272013
- Publication Type:Journal Article
- Keywords:
Hyperhomocysteinemia;
Psychotic symptoms;
Methylmalonic acidemia
- From:
Chinese Journal of Psychiatry
2024;57(2):100-104
- CountryChina
- Language:Chinese
-
Abstract:
Late-onset cobalamin C (cblC) deficiency is an inherited organic acid metabolic disorder characterized by clinical heterogeneity, which often presents challenges in accurate diagnosis. This article presents a case study of a young female patient who initially experienced epileptic-like seizures. Over a span of 9 years, she subsequently developed psychotic symptoms. Her condition has been steadily deteriorating over a period of 16 years, leading to mutism, loss of ambulation, dysphagia, and urinary and fecal incontinence. Although electroencephalography and cranial computed tomography did not show significant findings during the course of the illness, cranial magnetic resonance imaging showed evidence of cerebral atrophy. Biochemical analysis revealed elevated levels of blood homocysteine and urinary methylmalonic acid-2. Genetic testing identified two pathogenic mutations in the MMACHC gene, confirming the diagnosis of late-onset cobalamin C (cblC) deficiency. Despite receiving interventions such as antiepileptic and antipsychotic medications during the diagnostic and therapeutic phases, the patient′s clinical progress remained limited.Following the definitive diagnosis, targeted metabolic therapy was initiated, leading to significant clinical improvement. This article provides a comprehensive review of the patient′s clinical data, along with a synthesis of relevant literature, in order to enhance the awareness of psychiatric practitioners regarding this rare disorder. The primary objective is to promote early identification, prompt diagnosis, and timely intervention.
