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The interplay of psychosis and non-compliance with fatal outcome in an adult with MSUD.

Publication ,  Journal Article
Falah, N; Pendyal, S; Sasannejad, C; Gibson, A; Lee, YL; McDonald, M; Koeberl, D
Published in: Am J Med Genet A
April 29, 2024

Significant progress has been achieved in enhancing early outcomes for individuals with maple syrup urine disease (MSUD), a rare metabolic disorder that leads to the accumulation of branched-chain amino acids leucine, isoleucine, and valine, where leucine is known as the primary neurotoxic metabolite. Newborn screening is helpful in early diagnosis and implementation of dietary treatment, thus reducing neurological deterioration and complications in young children. However, patients face the life-long challenge of maintaining metabolic control through adherence to a strict low-leucine diet to avoid long-term consequences of chronic hyperleucinemia, which include cognitive deficits, mood disorders, and movement disorders. This case report exemplifies the complex involvement of MSUD in adult survivors. Despite presenting early in life, the patient thrived until the onset of psychiatric symptoms. The subject of this case is a 25-year-old woman with MSUD, who remained in her usual state of health until presentation to the emergency department (ED) with psychosis and altered mental status. However, due to a lack of medical records and poor communication, there was a delay in considering MSUD as a primary cause of her psychiatric symptoms. Although a genetics consultation was later arranged and efforts were made to decrease plasma leucine to the therapeutic range, these interventions proved inadequate in halting her deterioration in health. Her condition worsened within 72 h, culminating in her untimely death. This case emphasizes the comorbidity of psychiatric involvement in MSUD, which contributes to metabolic decompensation that can lead to cerebral edema and death. This case also highlights the pressing need for enhanced strategies for the acute management and long-term care of MSUD patients with psychiatric involvement, particularly in scenarios where mental disturbance could lead to noncompliance.

Duke Scholars

Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

April 29, 2024

Start / End Page

e63637

Location

United States

Related Subject Headings

  • 3202 Clinical sciences
  • 3105 Genetics
  • 1103 Clinical Sciences
  • 0604 Genetics
 

Citation

APA
Chicago
ICMJE
MLA
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Falah, N., Pendyal, S., Sasannejad, C., Gibson, A., Lee, Y. L., McDonald, M., & Koeberl, D. (2024). The interplay of psychosis and non-compliance with fatal outcome in an adult with MSUD. Am J Med Genet A, e63637. https://doi.org/10.1002/ajmg.a.63637
Falah, Nadia, Surekha Pendyal, Cina Sasannejad, Allison Gibson, Yu Lin Lee, Marie McDonald, and Dwight Koeberl. “The interplay of psychosis and non-compliance with fatal outcome in an adult with MSUD.Am J Med Genet A, April 29, 2024, e63637. https://doi.org/10.1002/ajmg.a.63637.
Falah N, Pendyal S, Sasannejad C, Gibson A, Lee YL, McDonald M, et al. The interplay of psychosis and non-compliance with fatal outcome in an adult with MSUD. Am J Med Genet A. 2024 Apr 29;e63637.
Falah, Nadia, et al. “The interplay of psychosis and non-compliance with fatal outcome in an adult with MSUD.Am J Med Genet A, Apr. 2024, p. e63637. Pubmed, doi:10.1002/ajmg.a.63637.
Falah N, Pendyal S, Sasannejad C, Gibson A, Lee YL, McDonald M, Koeberl D. The interplay of psychosis and non-compliance with fatal outcome in an adult with MSUD. Am J Med Genet A. 2024 Apr 29;e63637.
Journal cover image

Published In

Am J Med Genet A

DOI

EISSN

1552-4833

Publication Date

April 29, 2024

Start / End Page

e63637

Location

United States

Related Subject Headings

  • 3202 Clinical sciences
  • 3105 Genetics
  • 1103 Clinical Sciences
  • 0604 Genetics