The peroxisome biogenesis disorders (PBDs) comprise 12 autosomal recessive complementation groups (CGs). The multisystem clinical phenotype varies widely in severity and results from disturbances in both development and metabolic homeostasis. Progress over the last several years has lead to identification of the genes responsible for all of these disorders and to a much improved understanding of the biogenesis and function of the peroxisome. Increasing availability of mouse models for these disorders offers hope for a better understanding of their pathophysiology and for development of therapies that might especially benefit patients at the milder end of the clinical phenotype.

中文翻译：

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过氧化物酶体生物发生障碍。

过氧化物酶体生物发生障碍（PBD）包含12个常染色体隐性互补组（CGs）。多系统临床表型的严重程度差异很大，其原因是发育和代谢稳态的紊乱。最近几年的进展已导致鉴定出所有导致这些疾病的基因，并大大改善了对过氧化物酶体的生物发生和功能的了解。这些疾病的小鼠模型可用性的提高为更好地了解其病理生理学和开发可能特别有益于临床表型较轻的患者的疗法提供了希望。