Neonatal-onset hereditary coproporphyria: A new variant of hereditary coproporphyria

Kousei Hasegawa, Hiroyuki Tanaka, Miho Yamashita, Yousuke Higuchi, Takayuki Miyai, Junko Yoshimoto, Ayumi Okada, Norihiro Suzuki, Keiji Iwatsuki, Hirokazu Tsukahara

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Genetic mutation of the coproporphyrinogen oxidase (CPOX) gene causes either hereditary coproporphyria (HCP) or harderoporphyria. HCP, a rare hepatic porphyria, causes acute attacks after puberty and rarely accompanies cutaneous symptoms. In contrast, harderoporphyria is an erythropoietic porphyria that represents photosensitivity and hemolytic anemia from the neonatal period. In patients with harderoporphyria, the p.Lys404Glu mutation is found in the homozygous or compound heterozygous state with another mutation, and a marked increase in harderoporphyrin is observed. This report describes a neonate with symptoms of erythropoietic harderoporphyria (photosensitivity of the skin, hemolytic anemia, and jaundice). However, the pattern of porphyrin metabolites of feces was consistent with that of typical HCP, not of harderoporphyria. We found a heterozygous, novel, four-base pair deletion in exon 7 of the CPOX gene, although other mutations including the p.Lys404Glu mutation in CPOX were not found. By unknown etiology, our patient had accompanying adrenocortical insufficiency and 46, XY disorders of sex development. Based on genetic mutation of the CPOX gene and information from a previous similar case report, we consider that neonatal-onset HCP is a variant of HCP.

Original languageEnglish
Title of host publicationJIMD Reports
PublisherSpringer
Pages99-106
Number of pages8
DOIs
Publication statusPublished - Jan 1 2017

Publication series

NameJIMD Reports
Volume37
ISSN (Print)2192-8304
ISSN (Electronic)2192-8312

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Keywords

  • Coproporphyrinogen oxidase
  • Hereditary coproporphyria
  • Jaundice
  • Neonate
  • Photosensitivity

ASJC Scopus subject areas

  • Internal Medicine
  • Endocrinology, Diabetes and Metabolism
  • Biochemistry, Genetics and Molecular Biology (miscellaneous)

Cite this

Hasegawa, K., Tanaka, H., Yamashita, M., Higuchi, Y., Miyai, T., Yoshimoto, J., Okada, A., Suzuki, N., Iwatsuki, K., & Tsukahara, H. (2017). Neonatal-onset hereditary coproporphyria: A new variant of hereditary coproporphyria. In JIMD Reports (pp. 99-106). (JIMD Reports; Vol. 37). Springer. https://doi.org/10.1007/8904_2017_20