Article
Acute Intermittent Porphyria in children: A case report and review of the literature.
Molecular genetics and metabolism - 1 Dec 2016
Balwani Manisha, Singh Preeti, Seth Anju, Debnath Ekta Malik, Naik Hetanshi, Doheny Dana, Chen Brenden, Yasuda Makiko, Desnick Robert J
Abstract excerpt
Acute Intermittent Porphyria (AIP), an autosomal dominant inborn error of heme metabolism, typically presents in adulthood, most often in women in the reproductive age group. There are limited reports on the clinical presentation in children, and in contrast to the adults, most of the reported pediatric cases are male. While acute abdominal pain is the most common presenting symptom in children, seizures are...
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