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

被引：19

作者：

Bellettato, Cinzia Maria ^{[1
]}

Hubert, Leroy ^{[2
]}

Scarpa, Maurizio ^{[1
,3
,4
]}

Wangler, Michael F. ^{[2
,5
,6
]}

机构：

[1] Brains Brains Fdn, Dept Women & Children Hlth, Via Giustiniani 3, I-35128 Padua, Italy

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[3] Helios Dr Horst Schmidt Klin, Ctr Rare Dis, Dept Pediat & Adolescent Med, Ludwig Erhard Str 100, D-65199 Wiesbaden, Germany

[4] Univ Padua, Dept Women & Children Hlth, Via Giustiniani 3, I-35128 Padua, Italy

[5] Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA

[6] Baylor Coll Med, Program Dev Biol, Houston, TX 77030 USA

来源：

PEDIATRIC CLINICS OF NORTH AMERICA | 2018年 / 65卷 / 02期

关键词：

Peroxisome; Lysosome; Storage disorder; Very long chain fatty acids; BIFUNCTIONAL PROTEIN-DEFICIENCY; X-LINKED ADRENOLEUKODYSTROPHY; ZELLWEGER SPECTRUM; BIOGENESIS DISORDERS; KRABBE DISEASE; FABRY-DISEASE; ACID THERAPY; MUTATIONS; BIOCHEMISTRY; PHENOTYPE;

D O I：

10.1016/j.pcl.2017.11.011

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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. Peroxisomal disorders are characterized by enzymatic defects in peroxisomal pathways leading to metabolic and lipid changes, whereas 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.

引用

页码：353 / +

页数：23

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