Mucopolysaccharidoses and similar lysosomal disorders – A guide for affected individuals, their families, doctors and nursing professionals

1.Introduction122.The history of mucopolysaccharidoses and similar disorders152.1.Conspicuous features as a first indication152.2.Early possible traces of mucopolysaccharidosis and similar disorders162.3.First confirmed evidence of mucopolysaccharidoses and similar disorders162.4.The mucopolysaccharidoses and similar lysosomal storage disorders through the ages232.5.Outlook233.Physiology, biochemistry and pathophysiology in mucopolysaccharidoses and similar lysosomal storage disorders273.1.Physiology of lysosomes273.2.Formation (synthesis) of lysosomal enzymes273.3.Pathophysiology of lysosomal enzymes283.4.Measuring the activity of lysosomal enzymes293.5.Biochemistry293.6.Biochemical detection and diagnostics313.7.Further biomarkers in lysosomal storage disorders314.General aspects of mucopolysaccharidoses and similar lysosomal storage disorders344.1.Nomenclature and synonyms344.2.Frequency of lysosomal storage disorders354.3.Multisystemic diseases354.4.Genotype-phenotype correlation, special types364.5.Lysosomal storage disorders and co-morbidities364.6.Early symptoms of MPS and similar lysosomal storage disorders364.7.Clinical suspicions for lysosomal storage disorders374.8.The diagnostic odyssey404.9.Newborn screening404.10.Patient registries415.Clinical presentation of mucopolysaccharidoses435.1.General clinical aspects435.1.1.Dysostosis multiplex and typical radiological findings455.1.2.Imaging findings in the brain and spinal cord495.1.3.Heart and vessels505.1.4.Airway and anesthesia problems505.2.The clinical presentation of mucopolysaccharidosis505.2.1.Mucopolysaccharidosis type I - iduronidase deficiency505.2.2.Mucopolysaccharidosis type II - Hunter545.2.3.Mucopolysaccharidosis type III - Sanfilippo575.2.4.Mucopolysaccharidosis type IV - Morquio615.2.5.Mucopolysaccharidosis type VI - Maroteaux-Lamy675.2.6.Mucopolysaccharidosis type VII - Sly695.2.7.Mucopolysaccharidosis type IX - hyaluronidase deficiency715.2.8.Mucopolysaccharidosis type X - arylsulfatase K deficiency725.2.9.Mucopolysaccharidosis plus syndrome736.Selected similar lysosomal storage disorders and differential diagnoses776.1.Selected similar lysosomal storage disorders776.1.1.Oligosaccharidoses / glycoproteinoses786.1.1.1.Alpha-mannosidosis (a-mannosidosis)786.1.1.2.Alpha-N-acetylgalactosaminidase deficiency - Schindler disease796.1.1.3.Aspartylglucosaminuria806.1.1.4.Beta-mannosidosis (b-mannosidosis)806.1.1.5.Fucosidosis816.1.1.6.Galactosialidosis (Goldberg syndrome)826.1.1.7.Sialidosis - neuraminidase deficiency836.1.2.Sialic acid metabolic disorders846.1.2.1.Sialuria846.1.2.2.Free sialic acid storage disorders - ISSD and Salla disease846.1.3.Sphingolipidoses / neurolipidoses856.1.3.1.Fabry disease856.1.3.2.Farber disease and SMA-PME (ASAH1-Related Disorders)876.1.3.3.GM1 and GM2 gangliosidoses886.1.3.3.1.GM1 gangliosidosis (GLB1-associated disorder)886.1.3.3.2.GM2 gangliosidoses (Tay-Sachs and Sandhoff)896.1.3.4.Gaucher disease916.1.3.5.Krabbe disease (globoid cell leukodystrophy)936.1.3.6.Metachromatic leukodystrophy (arylsulfatase A deficiency)946.1.3.7.Acid sphingomyelinase deficiency and Niemann-Pick type C946.1.3.7.1.Acid sphingomyelinase deficiency (ASMD)956.1.3.7.2.Niemann-Pick disease type C966.1.4.Others966.1.4.1.CDG syndromes - diseases with disorders of glycosylation966.1.4.2.Lysosomal acid lipase deficiency (Wolman disease and cholesteryl ester storage disease)976.1.4.3.Multiple sulfatase deficiency986.1.4.4.Neuronal ceroid lipofuscinoses996.1.4.5.Pompe disease996.1.4.6.Pycnodysostosis1006.2.Differential diagnoses1036.2.1.Williams-Beuren syndrome1036.2.2.Coffin-Lowry syndrome1046.2.3.Smith-Magenis syndrome1056.2.4.Beckwith-Wiedemann syndrome1076.2.5.Congenital hypothyroidism1086.2.6.Type II collage