Table 1 Clinical manifestations of selected lysosomal storage disorders [3, 4]

Gaucher disease

Three clinical phenotypes:

 Type I, which does not have neurologic involvement

 Types II and III, the so-called neuronopathic forms, which both feature neurologic impairment

GBA

Imiglucerase—(Gaucher disease type I and type III)

Alglucerase—(Gaucher disease type I)

Eliglustat tartrate—(Gaucher disease type I)

Glucocerebrosidase

Glucosylceramide

Hepatosplenomegaly, thrombocytopenia, anemia, bone pain, and poor growth in children

Fabry disease

Age of onset is highly variable and can range from early childhood to the fifth decade or later

 Classic disease

 Late onset disease – milder form

GLA

Agalsidase beta

Alpha-galactosidase A/Alpha-galactosidase

Globotriaosylceramide (GL3)

Neuropathic pain, gastrointestinal symptoms, angiokeratomas (clusters of purplish, non-blanching punctate lesions) and hypohidrosis, and deteriorating renal function

Pompe disease

Infantile onset Pompe disease

G AA

Alglucosidas e alfa

Alglucosidase alfa

Glycogen

Hypertrophic cardiomyopathy, respiratory insufficiency, respiratory failure, muscle weakness, feeding/swallowing difficulties, hypotonia, and developmental delay

Late onset Pompe disease

Limb-girdle weakness, respiratory insufficiency, feeding/swallowing difficulties, gastrointestinal symptoms, ptosis

MPS I

Seven distinct forms (I, II, III, IV, VI, VII, IX) and numerous subtypes (eg, IIIA, IIIB, IIIC, IIID)

MPS I: IDUA

Laronidase

Alpha-L-iduronidase

Mucopolysaccharides (eg, dermatan sulfate, heparan sulfate, keratan sulfate)

Developmental delay, organomegaly, and dysostosis multiplex

MPS II: IDS

Idursulfase

Iduronate sulfatase

MPS VI: ARSB

Arylsulfatase B