Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases

Cinzia Maria Bellettato; Leroy Hubert; Maurizio Scarpa; Michael F Wangler

doi:10.1016/j.pcl.2017.11.011

Inborn Errors of Metabolism Involving Complex Molecules: Lysosomal and Peroxisomal Storage Diseases

Pediatr Clin North Am. 2018 Apr;65(2):353-373. doi: 10.1016/j.pcl.2017.11.011.

Authors

Cinzia Maria Bellettato¹, Leroy Hubert², Maurizio Scarpa³, Michael F Wangler⁴

Affiliations

¹ Brains for Brains Foundation, Department of Women and Children Health, Via Giustiniani 3, Padova 35128, Italy.
² Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
³ Brains for Brains Foundation, Department of Women and Children Health, Via Giustiniani 3, Padova 35128, Italy; Center for Rare Diseases, Department of Pediatric and Adolescent Medicine, Helios Dr. Horst Schmidt Klinik, Ludwig-Erhard-Straße 100, Wiesbaden 65199, Germany; Department of Women and Children Health, University of Padova, Via Giustiniani 3, Padova 35128, Italy.
⁴ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: michael.wangler@bcm.edu.

PMID: 29502918
DOI: 10.1016/j.pcl.2017.11.011

Abstract

Peroxisomes and lysosomes are distinct subcellular compartments that underlie several pediatric metabolic disorders. Knowledge of their function and cell biology leads to understanding how the disorders result from genetic defects. Diagnostic and therapeutic approaches for the disorders take advantage of the cell biology mechanisms. Whereas peroxisomal disorders are characterized by enzymatic defects in peroxisomal pathways leading to metabolic and lipid changes, lysosomal storage disorders are marked by accumulation of substrates of lysosomal pathways inside the lysosome. The human diseases related to these two organelles are reviewed, focusing on general disease patterns and underlying diagnosis and treatment principles.

Keywords: Lysosome; Peroxisome; Storage disorder; Very long chain fatty acids.

Publication types

Review

MeSH terms

Humans
Infant
Infant, Newborn
Lysosomal Storage Diseases / diagnosis*
Lysosomal Storage Diseases / therapy
Lysosomes / metabolism
Lysosomes / pathology
Peroxisomal Disorders / diagnosis*
Peroxisomal Disorders / therapy
Peroxisomes / metabolism
Peroxisomes / pathology

Grants and funding

R01 HG011795/HG/NHGRI NIH HHS/United States