Inborn Errors of Metabolism Involving Complex Molecules : Lysosomal and Peroxisomal Storage Diseases - 24/04/18

Doi : 10.1016/j.pcl.2017.11.011

Cinzia Maria Bellettato, PhD ^a, Leroy Hubert, PhD ^b, Maurizio Scarpa, PhD, MD ^a,^c,^d, Michael F. Wangler, MD ^b,^e,^f,^⁎
^a Brains for Brains Foundation, Department of Women and Children Health, Via Giustiniani 3, Padova 35128, Italy
^b Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
^c Center for Rare Diseases, Department of Pediatric and Adolescent Medicine, Helios Dr. Horst Schmidt Klinik, Ludwig-Erhard-Straße 100, Wiesbaden 65199, Germany
^d Department of Women and Children Health, University of Padova, Via Giustiniani 3, Padova 35128, Italy
^e Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, Houston, TX 77030, USA
^f Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA

^∗Corresponding author. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonTX77030

Résumé

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.

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Keywords : Peroxisome, Lysosome, Storage disorder, Very long chain fatty acids

Plan

Key points

Peroxisomes, lysosomes, and disease

Peroxisomal disorders

Peroxisomal Disorders Overview and Classification

Peroxisome Biogenesis Disorders Diagnosis and Treatment

Peroxisome Single Enzyme Defects

Lysosomal disorders

Lysosomal Disorders Overview and Classification

Mucopolysaccharidoses

Sphingolipidoses

Lysosomal Storage Disease Diagnosis

Lysosomal Storage Disease Management

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Vol 65 - N° 2

P. 353-373 - avril 2018 Retour au numéro

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Inborn Errors of Metabolism Involving Complex Molecules : Lysosomal and Peroxisomal Storage Diseases - 24/04/18

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