Acute Intermittent Porphyria in children: A case report and review of the literature

Mol Genet Metab. 2016 Dec;119(4):295-299. doi: 10.1016/j.ymgme.2016.10.005. Epub 2016 Oct 15.


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 commonly seen and may precede the diagnosis of AIP. As an example, we report a 9year old developmentally normal pre-pubertal boy who presented with acute abdominal pain, vomiting and constipation followed by hyponatremia, seizures, weakness and neuropathy. After a diagnostic odyssey, his urine porphobilinogen was found to be significantly elevated and genetic testing showed a previously unreported consensus splice-site mutation IVS4-1G>A in the HMBS gene confirming the diagnosis of AIP. Here, we discuss the clinical presentation in this case, and 15 reported pediatric cases since the last review 30years ago and discuss the differential diagnosis and challenges in making the diagnosis in children. We review the childhood-onset cases reported in the Longitudinal Study of the Porphyrias Consortium. Of these, genetically and biochemically confirmed patients, 11 of 204 (5%) reported onset of attacks in childhood. Most of these patients (91%) reported recurrent attacks following the initial presentation. Thus, AIP should be considered in the differential diagnosis of children presenting with unexplained abdominal pain, seizures, weakness and neuropathy.

Keywords: Acute porphyria; Metabolic; Pediatric; Seizures.

Publication types

  • Case Reports
  • Review
  • Research Support, N.I.H., Extramural

MeSH terms

  • Child
  • Female
  • Genetic Testing
  • Heme / genetics*
  • Heme / metabolism
  • Humans
  • Hydroxymethylbilane Synthase / genetics*
  • Male
  • Mutation
  • Porphobilinogen / urine
  • Porphyria, Acute Intermittent / diagnosis
  • Porphyria, Acute Intermittent / genetics*
  • Porphyria, Acute Intermittent / physiopathology
  • RNA Splice Sites / genetics
  • Seizures / diagnosis
  • Seizures / genetics*
  • Seizures / physiopathology


  • RNA Splice Sites
  • Heme
  • Porphobilinogen
  • Hydroxymethylbilane Synthase