Published: 2022-07-25

Clinical spectrum of lysosomal storage disorders in children

Pushpalatha Kariyappa, Dakshayani Manjunath, Sushmitha Sarode, Udayakumar SSeetharam Rao


Lysosomal storage diseases (LSDs) are inherited metabolic diseases that are characterized by the accumulation of various toxic metabolites as a result of enzyme deficiencies. LSDs comprises of more than 50 diseases and are classified on a biochemical basis and the type of accumulated substrate. Most of the LSDs are inherited as autosomal recessive disorders with a few exceptions. Gaucher disease is the most common LSD. Clinical presentation of these children usually includes- anaemia, easy bruising, abnormally enlarged liver and/or spleen. We report a case series of 12 children with LSD. Among them 9 (75%) with GD, 3 (25%) with MPS.  Based on the symptoms, in reducing order of frequency, children presented with generalised weakness, growth failure, abdominal distension, and developmental delay. 3 children with MPS had coarse facial features with reduced joint movements and hearing impairment. On examination, 5 children (41.6%) weighed less than third percentile, 9 (75%) had short stature, 10 (83%) had moderate to severe visceromegaly, CNS involvement in 2 children seen as hypotonia, occulomotor apraxia. Hematological parameters in all revealed- anaemia/leucopenia/thrombocytopenia- with two or more of the cell lines being affected. Bone marrow biopsy done in 9 (75%) children all of which were abnormal. Most of the children had enzyme activity levels between 0 to less than 15% of the normal reference range of the respective enzyme. ERT was initiated in 9 children (7 GD children and 2 MPS child) and followed up, showed a gradual amelioration in the symptoms by 1 year of regular ERT.


Lysosomal storage disorder, Clinical features, Enzyme replacement therapy

Full Text:



Nair V, Belanger EC, Veinot JP. Lysosomal storage disorders affecting the heart: a review. Cardiovasc Pathol. 2019;39:12-24.

Kingma SD, Bodamer OA, Wijburg FA. Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening. Best Pract Res Cl En. 2015; 29(2):145-57.

Bajaj S, Magar S, Sheth J. Lysosomal storage disorders: an underdiagnosed metabolic disorder. Indian Practition. 2020;73(6):26-32.

Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart. 2007;93(4):528-35.

Al-Jasmi FA, Tawfig N, Berniah A, Ali BR, Taleb M, Hertecant JL, et al. Prevalence and novel mutations of lysosomal storage disorders in United Arab Emirates. JIMD Rep. 2012;10:1-9.

Giugliani R, Brusius-Facchin AC, Pasqualim G, Leistner-Segal S, Riegel M, Matte U. Current molecular genetics strategies for the diagnosis of lysosomal storage disorders. Expert Rev Mol Diagn. 2016;16(1):113-23.

Verma PK, Ranganath P, Dalal AB, Phadke SR. Spectrum of lysosomal storage disorders at a medical genetics center in Northern India. Indian Pediatr. 2012;49:799-804.

Poswar FD, Vairo F, Burin M, Michelin-Tirelli K, Brusius-Facchin AC, Kubaski F, et al. Lysosomal diseases: Overview on current diagnosis and treatment. Genet Mol Biol. 2019;42(1):165-77.

Wraith JE. The clinical presentation of lysosomal storage disorders. Acta Neurol Taiwan. 2004;13(3): 101-6.

Beck M. Variable clinical presentation in lysosomal storage disorders. J Inherit Metab Dis. 2001;24(52): 47-51.

Muranjan A. Enzyme replacement therapy for lysosomal storage disorders in India. Mol Cytogen 2014;7(1):I29.

Burin MG, Scholz AP, Gus R, Sanseverino MV, Fritsh A, Magalhaes JA, et al. Investigation of lysosomal storage diseases in non-immune hydrops fetalis. Prenat Diagn. 2004;24:653-7.

Singh A, Prasad R, Mishra OP. Spectrum of lysosomal storage disorders at tertiary centre: Retrospective case-record analysis. J Pediatr Gen. 2020;9(02):87-92.

Magar S, Sangle A, Kale A, Engade M, Vaidya V, et al. The spectrum of lysosomal storage diseases at paediatric genetic clinic in Maharastra, India. Int J Sci Res. 2019;8(9):479-81.