ArticleTranslational pediatrics2021
Recurrent abdominal pain, vomiting, velvet-like changes in the small intestine in a patient with multiple acyl-CoA dehydrogenase deficiency: a case report.
Article in Translational pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.
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Who cites it
2 citing papers in PubMed, 1 synthesis or guideline pooled it, 0 citations in OpenAlex.
- Effectiveness of Riboflavin in Inherited Metabolic Diseases: A Systematic Review.Journal of inherited metabolic disease · 2026Pooled it
- Glutaric acidemia type 2 presenting as a surgical acute abdomen: a case of unnecessary exploratory laparotomy in an adult.Archive of clinical cases · 2026Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inborn error of metabolism in fatty acid oxidation. We described an unusual case of recurrent vomiting and abdominal pain in a child with MADD, presenting with velvet-like changes in the small intestine. Because of prominent gastrointestinal manifestations and small intestine ulcers, the patient was first diagnosed as Crohn's disease. The patient was admitted to our institution because of recurrent symptoms despite treatment. Upper and lower endoscopy, computed tomography and trios exome sequencing were performed. This patient underwent a repeated video endoscopy, which showed velvet-like changes in the small intestine rather than ulcers. Liver steatosis was identified by computed tomography. Serum tandem mass spectrometry showed elevated C8 and C10. Trios exome sequencing revealed compound heterozygous variants of c.250G>A, 524G>T in
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