Top

BMC Psychiatry

Published in:

01-12-2021 | Disorders of Intellectual Development | Case report

Functional neurologic disorders in an adult with propionic acidemia: a case report

Authors: Alexis Tarrada, Solène Frismand-Kryloff, Coraline Hingray

Published in: BMC Psychiatry | Issue 1/2021

Abstract

Background

Inborn errors of metabolism are often characterized by various psychiatric syndromes. Previous studies tend to classify psychiatric manifestations into clinical entities. Among inborn errors of metabolism, propionic acidemia (PA) is a rare inherited organic aciduria that leads to neurologic disabilities. Several studies in children with PA demonstrated that psychiatric disorders are associated to neurological symptoms. To our knowledge, no psychopathological description in adult with propionic acidemia is available.

Case presentation

We aimed to compare the case of a 53-year-old woman with PA, to the previous psychiatric descriptions in children with PA and in adults with other inborn errors of metabolism. Our patient presented a large variety of signs: functional neurologic disorders, borderline personality traits (emotional dyregulation, dissociative and alexithymic trends, obsessive-compulsive disorders), occurring in a context of neurodevelopmental disorder.

Conclusion

Clinical and paraclinical examinations are in favor of a mild mental retardation since childhood and disorders of behavior and personality without any definite psychiatric syndrome, as already described in other metabolic diseases (group 3). Nonetheless, further studies are needed to clarify the psychiatric alterations within adult patients with PA.

de Aquino Ferreira LF, Pereira FHQ, Benevides AMLN, Melo MCA. Borderline personality disorder and sexual abuse: a systematic review. Psychiatry Res. 2018;262:70–7. https://doi.org/10.1016/j.psychres.2018.01.043.CrossRefPubMed

Bagby RM, Parker JD, Taylor GJ. The twenty-item Toronto alexithymia scale--I. item selection and cross-validation of the factor structure. J Psychosom Res. 1994;38(1):23–32. https://doi.org/10.1016/0022-3999(94)90005-1.CrossRefPubMed

de la Dejean BC, Barbier V, Roda C, Brassier A, Arnoux J-B, Valayannopoulos V, et al. Autism Spectrum disorders in propionic Acidemia patients. J Inherit Metab Dis. 2018;41(4):623–9. https://doi.org/10.1007/s10545-017-0070-2.CrossRef

Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, et al. Proposed guidelines for the diagnosis and Management of Methylmalonic and Propionic Acidemia. Orphan J Rare Dis. 2014;9(September). https://doi.org/10.1186/s13023-014-0130-8.

Cotrina ML, Ferreiras S, Schneider P. High prevalence of self-reported autism Spectrum disorder in the propionic Acidemia registry. JIMD Rep. 2020;51(1):70–5. https://doi.org/10.1002/jmd2.12083.CrossRefPubMed

Dejean de la Bâtie C, Barbier V, Valayannopoulos V, Touati G, Maltret A, Brassier A, et al. Acute psychosis in propionic Acidemia: 2 case reports. J Child Neurol. 2014;29(2):274–9. https://doi.org/10.1177/0883073813508812.CrossRefPubMed

Dubester KA, Braun BG. Psychometric properties of the dissociative experiences scale. J Nerv Ment Dis. 1995;183(4):231–5. https://doi.org/10.1097/00005053-199504000-00008.CrossRefPubMed

Fraser JL, Venditti CP. Methylmalonic and propionic Acidemias: clinical management update. Curr Opin Pediatr. 2016;28(6):682–93. https://doi.org/10.1097/MOP.0000000000000422.CrossRefPubMedPubMedCentral

Graybiel AM, Rauch SL. Toward a neurobiology of obsessive-compulsive disorder. Neuron. 2000;28(2):343–7. https://doi.org/10.1016/S0896-6273(00)00113-6.CrossRefPubMed

10.

Grimshaw L. Obsessional disorder and neurological illness. J Neurol Neurosurg Psychiatry. 1964;27(3):229–31.CrossRefPubMedPubMedCentral

11.

Jamiolkowski D, Kölker S, Glahn EM, Barić I, Zeman J, Baumgartner MR, et al. Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic Acidurias and urea cycle disorders. J Inherit Metab Dis. 2016;39(2):231–41. https://doi.org/10.1007/s10545-015-9887-8.CrossRefPubMed

12.

Keshavan MS, Kaneko Y. Secondary psychoses: an update. World Psychiatry. 2013;12(1):4–15. https://doi.org/10.1002/wps.20001.CrossRefPubMedPubMedCentral

13.

Nizon M, Ottolenghi C, Valayannopoulos V, Arnoux J-B, Barbier V, Habarou F, et al. Long-term neurological outcome of a cohort of 80 patients with classical organic Acidurias. Orphan J Rare Dis. 2013;8(September):148. https://doi.org/10.1186/1750-1172-8-148.CrossRef

14.

Rapoport JL. Obsessive compulsive disorder and basal ganglia dysfunction. Psychol Med. 1990;20(3):465–9. https://doi.org/10.1017/S0033291700016962.CrossRefPubMed

15.

Rukavishnikov G, Kasyanov E, Zhilyaeva T, Neznanov N, Mazo G. Inherited metabolic diseases as a multisystem model of mental disorders research. J Inborn Errors Metab Screen. 2021;9:e20200015. https://doi.org/10.1590/2326-4594-jiems-2020-0015.CrossRef

16.

Sedel F, Baumann N, Turpin J-C, Lyon-Caen O, Saudubray J-M, Cohen D. Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults. J Inherit Metab Dis. 2007;30(5):631–41. https://doi.org/10.1007/s10545-007-0661-4.CrossRefPubMed

17.

Shuaib T, Al-Hashmi N, Ghaziuddin M, Megdad E, Abebe D, Al-Saif A, et al. Propionic Acidemia associated with visual hallucinations. J Child Neurol. 2012;27(6):799–803. https://doi.org/10.1177/0883073811426929.CrossRefPubMed

18.

Sindgikar SP, Shenoy KD, Kamath N, Shenoy R. Audit of organic Acidurias from a single Centre: clinical and metabolic profile at presentation with long term outcome. J Clin Diagn Res. 2017;11(9):SC11–14. https://doi.org/10.7860/JCDR/2017/28793.10632.CrossRef

19.

Tuncel AT, Boy N, Morath MA, Hörster F, Mütze U, Kölker S. Organic Acidurias in adults: late complications and management. J Inherit Metab Dis. 2018;41(5):765–76. https://doi.org/10.1007/s10545-017-0135-2.CrossRefPubMed

20.

Wajner M. Neurological manifestations of organic Acidurias. Nat Rev Neurol. 2019;15(5):253–71. https://doi.org/10.1038/s41582-019-0161-9.CrossRefPubMed

21.

Witters P, Debbold E, Crivelly K, Kerckhove KV, Corthouts K, Debbold B, et al. Autism in patients with propionic Acidemia. Mol Genet Metab. 2016;119(4):317–21. https://doi.org/10.1016/j.ymgme.2016.10.009.CrossRefPubMed

Title: Functional neurologic disorders in an adult with propionic acidemia: a case report
Authors: Alexis Tarrada
Solène Frismand-Kryloff
Coraline Hingray
Publication date: 01-12-2021
Publisher: BioMed Central
Keywords: Disorders of Intellectual Development
Intellectual Disability
Obsessive-Compulsive Disorder
Published in: BMC Psychiatry / Issue 1/2021
Electronic ISSN: 1471-244X
DOI: https://doi.org/10.1186/s12888-021-03596-2

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Functional neurologic disorders in an adult with propionic acidemia: a case report

Abstract

Background

Case presentation

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusion

Please log in to get access to this content

Other articles of this Issue 1/2021

Sleep problems in children with autism spectrum disorder: a multicenter survey

An investigation of the association between religious coping, fatigue, anxiety and depressive symptoms during the COVID-19 pandemic in Morocco: a web-based cross-sectional survey

Efficient visual search for facial emotions in patients with major depression

Gender difference in quality of life (QoL) among outpatients with schizophrenia in a tertiary care setting

The effect of depressive symptoms on pain in a substance-using population with persistent pain: a cross-sectional cohort study

Measuring clinical outcomes in children with pediatric acute-onset neuropsychiatric syndrome: data from a 2–5 year follow-up study