ArticleCureus2023
Isovaleric Acidemia: A Case Report.
Article in Cureus, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
2 citing papers in PubMed, 1 citations in OpenAlex.
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Isovaleric acidemia is an autosomal recessive disease of leucine metabolism. The clinical presentation is variable and three phenotypes are described, asymptomatic, acute neonatal, and chronic intermittent. Infections are the most important trigger for catabolic crises. Diagnosis is based on the detection of isovalerylglycine CoA in urine and elevated levels of isovaleryl (C5) carnitine in blood. Long-term treatment consists of prevention of catabolic state, dietary restriction, and supplementation with L-carnitine and/or L-glycine. We present the case of a three-year-old female patient with multiple episodes of decompensation since the age of two years. The episode in which she was diagnosed had encephalopathy, with no neurological sequelae. Currently, the patient continues with dietary restrictions and supplementation with good nutritional and growth results for her age.
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