ArticlePediatric gastroenterology, hepatology & nutrition2017
A Rare Cause of Recurrent Acute Pancreatitis in a Child: Isovaleric Acidemia with Novel Mutation.
Article in Pediatric gastroenterology, hepatology & nutrition, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate-Generating Antibiotics Contributed to False C5-Carnitine Positivity in a Chinese Population.Molecular genetics & genomic medicine · 2024Article
- Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants.Molecular genetics and metabolism reports · 2024Article
- 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
- Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child.Journal of Korean medical science · 2019Article
- Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories.Orphanet journal of rare diseases · 2018Review
- Organic acid disorders.Annals of translational medicine · 2018Review
- Aspects of Newborn Screening in Isovaleric Acidemia.International journal of neonatal screening · 2018Review
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Authors and funding
5 authors.
Funding
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Abstract
Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital anomalies, metabolic diseases or hereditary conditions. Isovaleric acidemia (IVA) is a rare autosomal recessive amino acid metabolism disorder associated with isovaleryl coenzyme A dehydrogenase deficiency presenting the clinical findings such metabolic acidosis with increased anion gap, hyperammonemia, ketonemia, hypoglycemia, "the odor of sweaty feet," abdominal pain, vomiting, feeding intolerance, shock and coma. Recurrent acute pancreatitis associated with IVA have been rarely reported. Herein; we report a child who admitted with recurrent acute pancreatic attacks and had the final diagnosis of IVA. Mutation analysis revealed a novel homozygous mutation of (
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