2025/03/01 by Till Burkhardt, Katharine Louise Kastor, Stine Christ +7 · 1 voice
Biochemistry, Genetics and Molecular Biology · Medicine · #Metabolism and Genetic Disorders #Alcoholism and Thiamine Deficiency #Biochemical and Molecular Research
paper · pdf · doi:10.1002/jmd2.12464
openalex publication_date 2025/03/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/05/21
Abstract This report details the case of an infant with confirmed propionic acidemia who presented with progressive neurological deterioration and recurrent episodes of metabolic decompensation with elevated lactate levels, but without hyperammonemia. The child's clinical course and neuroradiological findings increasingly deviated from the known clinical and neuroradiological spectrum of propionic acidemia. A rapid trio exome sequencing identified SLC19A3 ‐related thiamine metabolism dysfunction syndrome 2 as a second genetic disease. The pathomechanisms of both diseases synergize in the impairment of brain energy metabolism, and the associated clinical phenotypes partially overlap, which explains the severe and atypical course of propionic acidemia in the reported case.