Adult Neuropsychiatric Manifestation of Hartnup Disease With a Novel Variant: A Case Report.

Neurol Genet

From the Department of Neurology (T.B., J.-J.R., F.T.B.), University Hospital Leipzig; Institute of Human Genetics (H.F., R.A.J.), University Hospital Leipzig; Department of Psychiatry (C.P., M.K.), University of Leipzig; Hospital for Psychiatry (M.K.), Psychotherapy und Psychosomatics, Klinikum Glauchau; Department of Pediatrics (S.B.), University Hospital Leipzig; and Centre for Rare Diseases (S.B., F.T.B.), University Hospital Leipzig, Germany.

Published: December 2024

AI Article Synopsis

  • Inborn metabolic diseases in adults are often overlooked, particularly in routine diagnostics where suspicion is low.
  • A young patient initially diagnosed with anxiety disorder was ultimately found to have Hartnup disease after a series of unsuccessful treatments and extensive testing, which included whole-exome sequencing.
  • Following diagnosis, dietary changes and niacin supplementation led to significant improvements in the patient's condition, emphasizing the need for metabolic assessments in challenging neuropsychiatric cases.

Article Abstract

Objectives: In adults, inborn metabolic diseases are often missed in routine diagnostic settings due to a low level of suspicion.

Methods: A patient in their twenties was admitted for an apparent acute exacerbation of anxiety disorder. Medical treatment was unsuccessful, and presumed catatonic psychosis was treated by electroconvulsive treatment. The patient was referred to neurology with reduced level of consciousness, mutism with no targeted movements, obvious anxiety and tetraspasticity, eczema, and reduced body weight.

Results: EEG was normal; repeat brain MRI showed progressive atrophy and leukoencephalopathy. Autoimmune encephalitis was assumed and treated with plasma exchange, high-dose glucocorticoids, and intravenous immunoglobulin. Repeated CSF analyses remained normal. Metabolic workup showed hyperaminociduria, low neutral amino acids, and undetectable tryptophane. Whole-exome sequencing and segregation analysis revealed compound heterozygous, pathogenic and a novel, likely pathogenic variant in the gene: c.718C>T, p.(Arg240*) and c.170G>A, p.(Arg57His). Diagnosing Hartnup disease, high-protein diet, and niacin supplementation led to rapid considerable improvement. At 4 months, plasma amino acids were normal; communication and behavior were age-adequate; and spasticity had almost resolved, but polyneuropathy was unchanged.

Discussion: Metabolic workup and whole-exome sequencing are recommended in rapidly progressive neuropsychiatric disease, especially with additional neurologic signs and when standard treatment fails.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11604106PMC
http://dx.doi.org/10.1212/NXG.0000000000200195DOI Listing

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