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Year : 2021  |  Volume : 17  |  Issue : 1  |  Page : 16-17

A rare case of glutaric acidemia type 2 with psychosis

Department of Psychiatry, Amrita Institute of Medical Sciences, Kochi, Kerala, India

Date of Submission31-Oct-2020
Date of Decision15-Jan-2021
Date of Acceptance02-Feb-2021
Date of Web Publication18-May-2021

Correspondence Address:
Dr. Praveen Arathil
Department of Psychiatry, Amrita Institute of Medical Sciences, Ponekkara PO, Kochi - 682 041, Kerala
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/amjm.amjm_67_20

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Glutaric acidemia type 2 (GAII), also known as glutaric aciduria, is a rare type of inherited disorder, in which the body is unable to process certain proteins properly. Presentation can vary from mild myopathy to metabolic acidosis or cardiomyopathy, as well as neurological complications. However, psychiatric manifestations have not been reported. The present case describes one such instance where a young male presenting with symptoms of psychosis with underlying metabolic disorder was diagnosed with GAII. Issues concerning the adequate administration of psychotropic medication have also been addressed.

Keywords: Neurometabolic disorder, organic aciduria, psychosis

How to cite this article:
Arathil P, Nair A. A rare case of glutaric acidemia type 2 with psychosis. Amrita J Med 2021;17:16-7

How to cite this URL:
Arathil P, Nair A. A rare case of glutaric acidemia type 2 with psychosis. Amrita J Med [serial online] 2021 [cited 2022 Oct 3];17:16-7. Available from: https://ajmonline.org.in/text.asp?2021/17/1/16/316317

  Introduction Top

Glutaric acidemia type 2 (GAII) is an inborn error of metabolism affecting the oxidation of fatty acids as well as the catabolism of branched chain amino acids, lysine and tryptophan. The clinical phenotype has been classified into three groups: Neonatal onset with congenital anomalies (type 1), neonatal onset without anomalies (type 2), and later onset (type 3).[1] Even though psychiatric manifestations of inherited metabolic disorders are not uncommon, they are not identified very often. Literature is sparse on manifestations of classic psychiatric disorders in coexistence with various inherited metabolic disorders, with the exception of porphyrias.[2] We report a case of GAII with psychosis and its clinical relevance.

  Case Report Top

Mr F, 25-year-old male, single, unemployed with no family history of psychiatric disorder, was first referred to psychiatry from neurology 2 years earlier. This was for the symptoms of low mood, feeling that others blamed him for causing financial hardship to family, starting to hear voices of people telling him that he is a failure, having suicidal thoughts, and reduced sleep and appetite. All this was following the history of an injury to his right knee 2 months prior and being told by the consultant orthopedician that he has anterior cruciate ligament tear and may need surgery but which could be risky due to his preexisting condition.

The patient had already been treated with olanzapine 15 mg and escitalopram 20 mg for a month from outside hospital with no improvement. On mental state examination, the patient had delusion of reference, 3rd person auditory hallucinations, and depressed affect. Hence, a diagnosis of severe depression with psychotic symptoms was made. His past medical history showed that he had recurrent episodes of vomiting, excessive tiredness from 9 years of age, for which he was managed conservatively. At 11 years of age, he had another episode of vomiting, lethargy, jaundice, and high colored urine, along with marked difficulty in walking and climbing the stairs. He was evaluated by gastroenterologists at various hospitals for these recurring symptoms and diagnosed with hepatitis A, which was managed conservatively. However, difficulty in walking persisted along with headache and fatigue. For this, he was seen by the neurology department in our hospital at 18 years of age. Muscle biopsy was done, which revealed metabolic myopathy. Hence, a possibility of lipid storage disorder was considered, and he was referred to pediatric genetics. Physical examination at that time revealed a head circumference of 54 cm, no facial dysmorphism, wasting of pectoral muscle of left thorax, and hyperpigmentation of knuckles. Acylcarnitine profile was done which showed creatine kinase (CPK)-5949, free fatty acids 1422, elevated hydroxyhexanoic acid levels on gas chromatography-mass spectrometry, increased lactate levels, with deficiency of very long chain acyl coA dehydrogenase. Echocardiogram was normal, suggesting no cardiac involvement. The patient had episodic attacks of weakness, especially of neck extensors, shortness of breath on exertion particularly during periods without food. He was started on carnitine supplementation. Serum CPK remained high, and the patient had recurrent hypoglycemic events. A mutation study was performed when he was 21 years old, which showed a truncating variant in ETFDH and another variant of uncertain significance in ETFDH. The patient was started on high dose of riboflavin along with synthetic levocarnitine, with regular monitoring of CPK. He was maintaining well with adequate academic performance till the psychiatric symptoms occurred at the age of 23 years. At the time of first visit to psychiatry department, his CPK was 151 and showing a rising trend. The patient was started on fluoxetine 20 mg and lurasidone 20 mg. During subsequent visits, he revealed increase of third person auditory hallucinations and reduction of other mood symptoms. Lurasidone was increased to 120 mg, and within 2 months, the episode had fully remitted. The diagnosis had been revised to psychosis not otherwise specified as psychotic symptoms persisted despite mood symptoms improving initially. The CPK levels checked during this period showed a drop to around 90. However, as CPK started to go up slowly reaching up to 235, lurasidone was reduced to the minimum dose of 20 mg by 6 months, while fluoxetine 10 mg was continued. With this, CPK levels returned to below 100 on serial assessments. He has been doing well since then for the past 2 years.

  Discussion Top

The above case had clinical manifestations of a psychotic disorder with underlying impairment in metabolism of fatty and amino acid. Till date, there has been only one published case report of bipolar disorder in glutaric academia type 2 subject.[2] Another rare genetic disorder is Danon disease, characterized by an X-linked dominant inheritance pattern, in which males are more severely affected than females. There has been some speculation about psychiatric disease in this condition too, with case reports detailing depression, psychosis, suicidal ideation, and attention-deficit hyperactivity disorder along with intellectual disability. The CPK level in the blood is often elevated and is a reflection of ongoing muscle damage.[3] Chorea-acanthocytosis is a form of neuroacanthocytosis and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations, and cognitive disturbances.[4] Literature shows that, among the patients with myopathy and psychosis, the other phenotypes observed were depression, anxiety, visual impairment, weakness, and ataxia.[5] In this case, as there was severe myopathy, the challenge for the psychiatrist was to choose an antipsychotic which would not cause significant rise of CPK. To the best of our knowledge, this is the only case report which has co-occurrence of a psychotic disorder in a patient with GA type 2.

  Conclusion Top

Manifestations of classic psychiatric disorders in inherited metabolic disorders (other than porphyrias) is extremely rare. This case of genetically proven Glutaric acidemia type 2 was referred with severe depression with psychotic symptoms to the Psychiatry department. He was started on Fluoxetine and Lurasidone and doses were optimised during subsequent visits. He is doing well on these medicines since then.


We would like to thank Dr. Suresh Kumar (Professor, Department of neurology) and Dr. Sheela Nampoothiri (Professor, Department of Paediatric Genetics) for the guidance in clinical management of the nonpsychiatric aspects of the patient.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Przyrembel H, Wendel U, Becker K, Bremer HJ, Bruinvis L, Ketting D, et al. Glutaric aciduria type II: Report on a previously undescribed metabolic disorder. Clin Chim Acta 1976;66:227-39.  Back to cited text no. 1
Nanjundappa GB, Desai G, Kumar CS. Glutaric acidemia type II associated with bipolar affective disorder. German J Psychiatry 2011;14:48-50.  Back to cited text no. 2
Yardeni M, Weisman O, Mandel H, Weinberger R, Quarta G, Salazar-Mendiguchía J, et al. Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation). Am J Med Genet A 2017;173:2461-6.  Back to cited text no. 3
Del Valle-López P, Cañas-Cañas MT, Cámara-Barrio S. Psychiatric symptoms in a woman with chorea-acanthocytosis. Actas Esp Psiquiatr 2013;41:133-6.  Back to cited text no. 4
Loehr JP, Goodman SI, Frerman FE. Glutaric acidemia type II: Heterogeneity of clinical and biochemical phenotypes. Pediatr Res 1990;27:311-5.  Back to cited text no. 5


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