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Article

Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene.

Journal of inherited metabolic disease - 1 Jan 2003

Seidel J, Streck S, Bellstedt K, Vianey-Saban C, Pedersen C B, Vockley J, Korall H, Roskos M, Deufel T, Trefz K F, Sewell A C, Kauf E, Zintl F, Lehnert W, Gregersen N

Abstract excerpt

We report identification of short-chain acyl-CoA dehydrogenase (SCAD) deficiency in a 12-year-old boy who suffered from recurrent attacks of vomiting once or twice a year from infancy. Growth and development were normal and there were no muscular symptoms. Metabolic screening was performed during a hospitalization at 8 years of age and revealed an increased excretion of ethylmalonic acid (EMA; 45-80 mmol/mol...

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Identifiers

PMID: 12872838
DOI: 10.1023/a:1024019311933

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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