ArticleAnnals of Indian Academy of Neurology
Pediatric Glutaric Aciduria Type 1: 14 Cases, Diagnosis and Management.
Article in Annals of Indian Academy of Neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 6 citations in OpenAlex.
- Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.European journal of pediatrics · 2024Article
- Article
- Ataxia in Neurometabolic Disorders.Metabolites · 2022Review
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
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Abstract
introductionGlutaric aciduria type I is an autosomal recessive disorder of lysine metabolism due to the defect of the enzyme glutaryl-CoA dehydrogenase. The regression of milestones following an intercurrent infection with disabling dystonia is the common presentation. We report the clinical features, diagnosis, and management of 14 south Indian children with glutaric aciduria type I.
resultsMales predominated the study (57.1%). The mean age of onset of the symptoms was 8.57 ± 3.57 months. The mean age at the time of diagnosis was 35.21 ± 48.31 months. The history of consanguinity was noted in 57.1%. Development was normal prior to the onset of acute crises in nearly three fourths. Acute crises triggered by infection followed by the regression of milestones was the major presenting feature in 10 children (71.4%). Macrocephaly was another prominent feature in an equal number. Bat's wing appearance (fronto temporal atrophy) was present in all children. Nearly 80% had moderate to severe disability in the form of dystonic movement disorder and spastic quadriparesis.
conclusionGlutaric aciduria type Ihas to be identified and managed early to have a better outcome.
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