Copyright ©The Author(s) 2022.
World J Hepatol. Oct 27, 2022; 14(10): 1844-1861
Published online Oct 27, 2022. doi: 10.4254/wjh.v14.i10.1844
Table 1 Lysosomal storage disorders: Classification and clinical features
DiseasesCardinal featuresDegree of hepatosplenomegalyLiver involvement
Diseases with major liver dysfunction: Sphingolipid and lipid storage disorders
GaucherBone and lung infiltration, neurological (type II), nonneurological (type I), and intermediate (type III) forms; Paralytic squint (type II), Oculomotor apraxia/horizontal supranuclear gaze palsy (type III); Bone marrow failure, hematolymphoid malignancy (type I); Lymphadenopathy (type I)Moderate to markedNeonatal cholestasis, cirrhosis, portal hypertension, adenoma, hepatocellular carcinoma
Niemann-Pick A and BLung infiltration, neurological (type A) and nonneurological (type B); Cherry red spot (50%); Lymphadenopathy (type A)Moderate to markedFetal hydrops (type A), cirrhosis, portal hypertension
Niemann-Pick CVertical supranuclear gaze palsy; NeurodegenerationModerate to markedNeonatal cholestasis, fetal hydrops, liver failure, cirrhosis, portal hypertension
Lysosomal acid lipase deficiencySteatorrhea, adrenal calcification (50%); Abnormal lipid profileMild to moderateAsymptomatic hypertransaminasemia, liver failure
Diseases without major liver dysfunction
Group 1: Sphingolipid and lipid storage disorders
GM gangliosidosisNeuroregression, dysostosis, cherry red spotAbsent to mildAsymptomatic hepatomegaly
FarberSubcutaneous nodules, joint involvementMild to moderateAsymptomatic hepatomegaly
Group 2: Mucolipidoses
Mucolipidoses I, II and IIISeizures and cherry red spot (type I), kyphoscoliosis, joint contractures, dysostosis, cardiomyopathyMild to moderateAsymptomatic hepatomegaly
Group 3: Glycoprotein storage disorders
GalactosialodosisMimics GM gangliosidosis, mental retardationMild to moderateAsymptomatic hepatomegaly
FucosidosisAngiokeratoma, mental retardationMild to moderateAsymptomatic hepatomegaly
α-MannosidosisDeafness, mental retardationMild to moderateAsymptomatic hepatomegaly
Group 4: Mucopolysaccharidoses
Mucopolysaccharidoses I,II, III, IV, VI, VIICoarse facies, corneal clouding (types I, IV, VII), mental retardation (types I, III, VII), dysostosis (types I, IV, VI), cardiomyopathyMild to moderate. Absent in milder variantsAsymptomatic hepatomegaly