| Autor: |
Tomoyasu Higashimoto, Matthew T. Whitehead, Erin MacLeod, Danielle Starin, Debra S. Regier |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100886- (2022) |
| Druh dokumentu: |
article |
| ISSN: |
2214-4269 |
| DOI: |
10.1016/j.ymgmr.2022.100886 |
| Popis: |
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease resulting in impaired or absent breakdown of branched-chain amino acids (BCAA) valine, isoleucine, and leucine. Classic MSUD often presents in post-natal periods, at times before newborn screening results, and is treated with a protein restricted diet supplemented with medical food and close follow up to prevent toxic buildup of blood leucine.Acute episodes of decompensation are prevented by early recognition and treatment. Acute episodes of metabolic decompensation in patients with MSUD are medical emergencies that require immediate treatments as cerebral edema may lead to brain-stem compression resulting in death. As the early outcomes improve for MSUD patients, the long-term sequelae of chronic hyperleucemia are being elucidated and include cognitive impairment, mental health disorders, and movement disorders.In this report we present an adult patient with MSUD with attention deficit, hyperactivity type (ADHD) and depression due to prolonged exposure to elevated leucine managed with community support services who presented to the emergency department with new onset of acute hallucinations. He was held in the emergency department awaiting involuntary commitment to a psychiatric facility and underwent psychiatric treatments for suspected new onset hallucinations without improvement. Upon notification of metabolic specialists and initiation of appropriate therapy of MSUD, his leucine level normalized rapidly with resolution of his acute psychosis.This case describes the acute presentation of psychosis in the setting of long-term toxicity of leucine. This case also highlights the importance of transition of care, education and planning in patients with inborn errors of metabolism. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
