ArticleEuropean journal of pediatrics2013
Cyclic vomiting syndrome masking a fatal metabolic disease.
Article in European journal of pediatrics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 18 citations in OpenAlex.
- Navigating the Diagnostic Journey in Pediatric Gastroenterology: Decoding Recurrent Vomiting and Epigastric Pain in a Child with Glutaric Aciduria Type II.Children (Basel, Switzerland) · 2024Article
- Article
- Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.Frontiers in pediatrics · 2021Article
- Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency.Case reports in critical care · 2019Article
- Recurrent Gastrointestinal Disturbance: Abdominal Migraine and Cyclic Vomiting Syndrome.Current neurology and neuroscience reports · 2017Review
- Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations.Headache · 2016Article
- Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.Orphanet journal of rare diseases · 2014Article
- Mitochondrial disorder caused Charles Darwin's cyclic vomiting syndrome.International journal of general medicine · 2014Article
- [Muscle weakness and early stages of liver failure in a 22-year-old man].Der Internist · 2013Article
- Episodic Syndromes That May Be Associated With Migraine: A.K.A. "the Childhood Periodic Syndromes".HeadacheReview
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Disorders of fatty acid oxidation are rare but can be fatal. Hypoglycaemia with acidosis is a cardinal feature. Cases may present during early childhood or can be delayed into adolescence or beyond. We present a case of multiple acyl-coenzyme A dehydrogenase deficiency (MADD), an extremely rare disorder of fatty acid oxidation. Our 20-year-old patient presented with cardiovascular collapse, raised anion gap metabolic acidosis and non-ketotic hypoglycaemia. She subsequently developed multi-organ failure and sadly died. She had a previous diagnosis of cyclic vomiting syndrome (CVS) for more than 10 years, warranting frequent hospital admissions. The association between CVS and MADD has been made before though the exact relationship is unclear. All patients with persistent severe CVS should have metabolic investigations to exclude disorders of fatty acid oxidation. In case of non-ketotic hypoglycaemia with acidosis, the patient should be urgently referred to a specialist in metabolic diseases. All practitioners should be aware of these rare disorders as a cause of unexplained acidosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.