ArticleWorld journal of clinical cases2021
Neonatal isovaleric acidemia in China: A case report and review of literature.
Article in World journal of clinical cases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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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.
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Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- Isovaleric Acidemia: A Case Report.Cureus · 2023Article
- Analysis of the genotype-phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review.Frontiers in neurology · 2022Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIsovaleric acidemia (IVA) is a rare autosomal recessive inherited organic acidemia caused by a genetic deficiency of isovaleryl-CoA dehydrogenase (IVD). Its morbidity is low, but mortality is high. There is no effective cure for this disease. Early identification of IVA using clinical features can significantly slow disease progression and reduce mortality. Here we report a Chinese neonate with two mutations of IVD and share valuable information on this disease. CASE SUMMARY: A 12-day-old male neonate with "poor response for 1 d and repeated convulsions accompanied by high muscle tension for 6 h" was hospitalized. The patient was the first child of nonconsanguineous ethnic Chinese parents. He was delivered by cesarean section due to breech position at 39 + 1 wk of gestation with a birth weight of 3.27 kg. Initially, he suffered from dyspnea and rhinobyon, and at 10 d after birth the patient suddenly developed poor feeding, low response, lethargy and seizures. Organic acid analysis of blood and urine by tandem mass spectrometry and gas chromatography mass spectrometry showed extremely high concentrations of isovaleryl glycine. The patient had an acute episode of IVA causing severe metabolic stress and eventually died.
conclusionA new case of an IVA patient carrying c.1193G>A (p.Arg398Gln) and c.1208A>G (p.Try403Cys) mutations is reported in China.
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