We discuss a previously healthy adolescent male presenting with subacute neuropsychiatric issues, tremors, hyperreflexia, and hypertension. Laboratory studies revealed acute imposed 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 under-recognition of a treatable underlying etiology.
SloanJLCarrilloNAdamsD, et al.Disorders of intracellular cobalamin metabolism, NIH gene reviews2021.
2.
HuemerMDiodatoDSchwahnB, et al.Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. J Inherit Metab Dis2017; 40(1): 21–48. DOI: 10.1007/s10545-016-9991-4.
3.
SedelFBaumannNTurpinJC, et al.Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults. J Inherit Metab Dis2007; 30(5): 631–641. DOI: 10.1007/s10545-007-0661-4.
4.
MochelFSedelF. Inborn errors of metabolism in adults: a diagnostic approach to neurological and psychiatric presentations. In: SaudubrayJMBaumgartnerMRWalterJ (eds) Inborn Metabolic Diseases. 6th ed.Berlin: Springer, 2016, pp. 71–88. DOI: 10.1007/978-3-662-49771-5.
