Glutaric aciduria type I associated with learning disability.
The authors report a 7-year-8-months-old boy with glutaric aciduria type I who had associated dyslexia, dysgraphia and dyscalculia. The diagnosis of glutaric aciduria type I was confirmed on the basis of characteristic neuroimaging and biochemical findings. Axial T1-weighted magnetic resonance imaging scan of the brain showed fronto-temporal atrophy, open opercula and bat-wing dilatation of the sylvian fissures. Axial T[2]-weighted and FLAIR imaging showed hyperintense signal abnormality in both putamen and in the fronto-parietal deep white matter. Urinary aminoacidogram by thin layer chromatography revealed a generalized aminoaciduria. Urinary organic acid analysis by gas chromatography- mass spectroscopy revealed a marked excretion of glutaric acid. Psychoeducational testing was used to diagnose the learning disability. We postulate that the accumulation of glutaric acid and other metabolites was responsible for the child developing the associated learning disability.
Patil
Neela
N
Shinde
Santosh
S
Karande
Sunil
S
Kulkarni
Madhuri
M
D001921:Brain / Q000473:pathology; D020739:Brain Diseases, Metabolic, Inborn / Q000150:complications* / Q000473:pathology / Q000652:urine*; D002648:Child; D005977:Glutarates / Q000652:urine*; D006801:Humans; D007859:Learning Disabilities / Q000150:complications*; D008279:Magnetic Resonance Imaging; D008297:Male
D005977:Glutarates; C035736:glutaric acid