Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1.

ABSTRACT: Glutaric aciduria type 1 (GA1) is a neurometabolic disorder characterized by striatal injury in infancy and extrastriatal central nervous system abnormalities, the latter depending on the biochemical subtype. Whether the peripheral nervous system (PNS) is also affected has not been systematically studied. Therefore, we conducted a cross-sectional study of 21 GA1 patients (15 high excretor [HE], 6 low excretor [LE]), identified either by newborn screening (NBS, n = 11) or targeted metabolic diagnostics (TMD, n = 10). All underwent clinical evaluation, cerebral MRI, neurophysiology, and MR-neurography (MRN) of the sciatic nerve with magnetization transfer imaging and diffusion tensor imaging (DTI). Nerve magnetization transfer ratio (MTR) was analyzed across subgroups and against 21 age-matc

SUBMITTER: Preisner F 

PROVIDER: S-EPMC12765624 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature