We discuss a previously healthy adolescent male presenting with subacute neuropsychiatric issues, tremors, hyperreflexia, and hypertension. Laboratory studies revealed acute on chronic kidney disease. Additional investigations yielded a treatable late-onset inborn error of metabolism (IEM). Late-onset forms of IEMs may present very differently than early-onset disease manifestations (e.g., neuropsychiatric issues may be the predominant symptom), thus leading to the underrecognition of a treatable underlying etiology.
Keywords: cobalamin C deficiency; late-onset inborn error of metabolism.
An inborn error of metabolism presenting with subacute neuropsychiatric symptoms In this report, we discuss a previously healthy boy who developed mental health problems, shaking, and high blood pressure. Tests showed he had kidney issues, and further investigations revealed a treatable genetic metabolic disorder that appeared later in life. Unlike early forms of this disorder, this late-onset version can present with mainly neuropsychiatric problems. Physicians need to be vigilant to look for a treatable cause behind such symptoms.
© The Author(s) 2024.