Powered by OpenAIRE graph
Found an issue? Give us feedback
addClaim

Glutaric aciduria type I associated with learning disability.

Authors: Neela, Patil; Santosh, Shinde; Sunil, Karande; Madhuri, Kulkarni;

Glutaric aciduria type I associated with learning disability.

Abstract

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.

Keywords

Glutarates, Male, Learning Disabilities, Brain, Brain Diseases, Metabolic, Inborn, Humans, Child, Magnetic Resonance Imaging

  • BIP!
    Impact byBIP!
    selected citations
    These citations are derived from selected sources.
    This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    5
    popularity
    This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
    Average
    influence
    This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
    Average
    impulse
    This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
    Average
Powered by OpenAIRE graph
Found an issue? Give us feedback
selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
5
Average
Average
Average
Upload OA version
Are you the author of this publication? Upload your Open Access version to Zenodo!
It’s fast and easy, just two clicks!