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Article

Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival.

Brain & development - 1 Jan 2019

Zaabi Nuha Al, Kendi Anoud, Al-Jasmi Fatma, Takashima Shigeo, Shimozawa Nobuyuki, Al-Dirbashi Osama Y

Abstract excerpt

BACKGROUND: Mutations in PEX16 cause peroxisome biogenesis disorder (PBD). Zellweger syndrome characterized by neurological dysfunction, dysmorphic features, liver disease and early death represents the severe end of this clinical spectrum. Here we discuss the diagnostic challenge of atypical PEX16 related PBD in 3 patients from highly inbred kindred and describe the role of specific metabolites analyses,...

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Source

Identifiers

PMID: 30078639
DOI: 10.1016/j.braindev.2018.07.015

Genes

PEX16

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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