Porphyria attacks in prepubertal children and adolescents

Mol Genet Metab. 2021 Jul;133(3):242-249. doi: 10.1016/j.ymgme.2021.04.008. Epub 2021 May 7.


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.

Keywords: Abdominal pain; Adolescent; Child; Epilepsy; Neurologic manifestations; Pediatrics; Porphobilinogen; Porphyrias; Puberty; Seizures.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Female
  • Humans
  • Liver / pathology
  • Male
  • Porphobilinogen Synthase / deficiency*
  • Porphyrias, Hepatic / diagnosis*
  • Porphyrias, Hepatic / physiopathology*
  • Sex Distribution


  • Porphobilinogen Synthase

Supplementary concepts

  • Porphyria, Acute Hepatic