Porphyria attacks in prepubertal children and adolescents

Daniel A. Jaramillo-Calle, Yuliana A. Martinez, Manisha Balwani, Camila Fernandez, Martin Toro

Research output: Contribution to journalReview articlepeer-review

2 Scopus citations


Context: The clinical and laboratory features of dominant acute hepatic porphyrias (AHPs) in prepubertal children and adolescents have not been well established. Objective: To evaluate clinical and laboratory features of AHPs in prepubertal children and adolescents compared to adults. Data sources: OVID (Embase Classic+Embase and MEDLINE), Scopus, and Google Scholar. Study selection: Studies describing symptomatic children or adolescents (<18 years old) with increased urinary porphobilinogen were included. Data extraction: Two reviewers independently extracted the data, with a third reviewer arbitrating discrepancies. Results: 100 studies were included describing 112 patients (26 prepubertal children and 86 adolescents). Differences were found between prepubertal children and adolescents regarding sex distribution (female-to-male ratio: 1:2 vs. 4:1), clinical manifestations, and concomitant clinical manifestations. Limitations: There was variation in the methods used to diagnose porphyria attacks across studies, and some elements of the quality of individual studies were unclear. Conclusions: Prepubertal children with AHPs and porphyria attacks presented with distinct demographic and clinical characteristics from adolescents and adults. Nearly two-thirds of the affected children were males, and about half had a concomitant medical condition that can constitutively upregulate hepatic δ-aminolevulinic acid synthase-1. Adolescents were comparable to adults in almost all respects.

Original languageEnglish
Pages (from-to)242-249
Number of pages8
JournalMolecular Genetics and Metabolism
Issue number3
StatePublished - Jul 2021


  • Abdominal pain
  • Adolescent
  • Child
  • Epilepsy
  • Neurologic manifestations
  • Pediatrics
  • Porphobilinogen
  • Porphyrias
  • Puberty
  • Seizures


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