Case 5: Acute Vomiting and Hallucinations in a 5-year-old Vegan Girl

Farrell, Leslie; Kalburgi, Sonal; McGarry-Hansen, Michelle; Regier, Debra S.

doi:10.1542/pir.2016-0064

Cited by 1 publication

(1 citation statement)

References 2 publications

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“…Currently, available literature showed that, despite strict diet therapy or liver transplantation that restore peripheral BCAA homeostasis, MSUD patients are at higher risk for neuropsychological impairments including cognitive deficits and mental illness (anxiety, depression, ADHD, and OCD) compared to healthy controls [ 9 , 46 , 47 , 48 ]. Although psychosis is commonly seen in inborn errors of metabolism [ 49 ], only a few cases of acute psychosis and hallucinations were reported in MSUD patients [ 50 , 51 , 52 ]. This might be due to the current management of MSUD, which greatly improves BCAA metabolism.…”

Section: Potential Impacts Of Decreased Brain Glutamate In Msudmentioning

confidence: 99%

Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders

Jakher

Ahrens‐Nicklas

2020

IJMS

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Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by decreased activity of the branched-chain α-ketoacid dehydrogenase complex (BCKDC), which catalyzes the irreversible catabolism of branched-chain amino acids (BCAAs). Current management of this BCAA dyshomeostasis consists of dietary restriction of BCAAs and liver transplantation, which aims to partially restore functional BCKDC activity in the periphery. These treatments improve the circulating levels of BCAAs and significantly increase survival rates in MSUD patients. However, significant cognitive and psychiatric morbidities remain. Specifically, patients are at a higher lifetime risk for cognitive impairments, mood and anxiety disorders (depression, anxiety, and panic disorder), and attention deficit disorder. Recent literature suggests that the neurological sequelae may be due to the brain-specific roles of BCAAs. This review will focus on the derangements of BCAAs observed in the brain of MSUD patients and will explore the potential mechanisms driving neurologic dysfunction. Finally, we will discuss recent evidence that implicates the relevance of BCAA metabolism in other neurological disorders. An understanding of the role of BCAAs in the central nervous system may facilitate future identification of novel therapeutic approaches in MSUD and a broad range of neurological disorders.

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