Download PDF
J Pediatr Genet 2020; 09(02): 087-092
DOI: 10.1055/s-0039-3402070
Original Article
Georg Thieme Verlag KG Stuttgart · New York

Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis

Ankur Singh
1   Department of Paediatrics, Genetic Clinic, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India
,
Rajniti Prasad
1   Department of Paediatrics, Genetic Clinic, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India
,
Om Prakash Mishra
1   Department of Paediatrics, Genetic Clinic, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India
› Author Affiliations
Further Information

Publication History

24 August 2019

22 November 2019

Publication Date:
02 January 2020 (online)

Also available at
    Permissions and Reprints

Abstract

Lysosomal storage disorders (LSDs) are relatively common slow progressive inborn error of metabolism encountered by clinicians. This work intends to highlight the more common LSDs, their clinical presentation, outcome, and mutation (wherever feasible) collected from the genetic clinic at tertiary care center in Eastern Uttar Pradesh. The data for analysis were collected retrospectively from genetic records from a follow-up clinic. All cases < 18 years of age were analyzed. Cases with LSDs with confirmed enzyme results were enrolled in this study. Clinical profile, screening test results, and outcome were collected. There were 32 cases including 27 males and 5 females in this cohort: 8 Gaucher disease (GD) patient and 24 non-GD patients. GD (type 1) is the commonest LSD in GD group. Anemia, thrombocytopenia, splenomegaly, and hepatomegaly were the consistent finding in patients with GD (type 1). L483P mutation was reported in two GD patients. One GD patient is on enzyme replacement therapy for 2 years and is currently doing well. The commonest disorders in non-GD were mucopolysaccharidosis (MPS) (n = 11), metachromatic leukodystrophy (n = 4), I-cell disease (n = 3), Niemann-Pick A/B (n = 3). MPS-II is the commonest MPS among non-GD group.

Keywords

lysosomal storage disorders - Gaucher disease - pediatric

Authors' Contribution

A.S. collected the primary data, R.P. conceptualized the idea as well as drafted the manuscript. R.P. did literature review and wrote parts of manuscript. O.P.M. helped in excavating the related literature on the subject. R.P. and O.P.M. gave critical inputs for improving the manuscript.


 

  • References

  • 1 Parkinson-Lawrence EJ, Shandala T, Prodoehl M, Plew R, Borlace GN, Brooks DA. Lysosomal storage disease: revealing lysosomal function and physiology. Physiology (Bethesda) 2010; 25 (02) 102-115
    CrossrefPubMedSearch in Google Scholar
  • 2 Lysosomal disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kindler KW. , et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th edition. New York: McGraw-Hill; 2001: 3371-3877
    Search in Google Scholar
  • 3 Vellodi A, Foo Y, Cole TJ. Evaluation of three biochemical markers in the monitoring of Gaucher disease. J Inherit Metab Dis 2005; 28 (04) 585-592
    CrossrefPubMedSearch in Google Scholar
  • 4 Futerman AH, Sussman JL, Horowitz M, Silman I, Zimran A. New directions in the treatment of Gaucher disease. Trends Pharmacol Sci 2004; 25 (03) 147-151
    CrossrefPubMedSearch in Google Scholar
  • 5 Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999; 281 (03) 249-254
    CrossrefPubMedSearch in Google Scholar
  • 6 Agarwal S, Lahiri K, Muranjan M, Solanki N. The face of lysosomal storage disorders in India: a need for early diagnosis. Indian J Pediatr 2015; 82 (06) 525-529
    CrossrefPubMedSearch in Google Scholar
  • 7 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 (10) 799-804
    CrossrefPubMedSearch in Google Scholar
  • 8 Kadali S, Kolusu A, Gummadi MR, Undamatla J. The relative frequency of lysosomal storage disorders: a medical genetics referral laboratory's experience from India. J Child Neurol 2014; 29 (10) 1377-1382
    CrossrefPubMedSearch in Google Scholar
  • 9 Sheth J, Mistri M, Sheth F. , et al. Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. JIMD Rep 2014; 12: 51-63
    CrossrefPubMedSearch in Google Scholar
  • 10 Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D. , eds. Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill; 2001: 3635
    Search in Google Scholar
  • 11 Ankleshwaria C, Mistri M, Bavdekar A. , et al. Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease. J Hum Genet 2015; 60 (05) 285
    CrossrefPubMedSearch in Google Scholar
  • 12 Bisariya V, Mistry PK, Liu J, Chaudhari MR, Gupta N, Kabra M. The mutation spectrum in Indian patients with Gaucher disease. Genome Biol 2011; 12 (Suppl. 01) 26
    PubMedSearch in Google Scholar
  • 13 Sheth J, Bhavsar R, Mistri M. , et al. Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. BMC Med Genet 2019; 20 (01) 31
    PubMedSearch in Google Scholar
  • 14 Amaral O, Lacerda L, Santos R, Pinto RA, Aerts H, Sa Miranda MC. Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal. Biochem Med Metab Biol 1993; 49 (01) 97-107
    CrossrefPubMedSearch in Google Scholar
  • 15 Chabás A, Cormand B, Balcells S. , et al. Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain. J Inherit Metab Dis 1996; 19 (06) 798-800
    CrossrefPubMedSearch in Google Scholar
  • 16 Koprivica V, Stone DL, Park JK. , et al. Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. Am J Hum Genet 2000; 66 (06) 1777-1786
    CrossrefPubMedSearch in Google Scholar
  • 17 Pastores GM, Weinreb NJ, Aerts H. , et al. Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 2004; 41 (04) (Suppl. 05) 4-14
    CrossrefPubMedSearch in Google Scholar
  • 18 Muranjan M, Karande S. Enzyme replacement therapy in India: lessons and insights. J Postgrad Med 2018; 64 (04) 195-199
    CrossrefPubMedSearch in Google Scholar
  • 19 Thappa DM, Singh A, Jaisankar TJ, Rao R, Ratnakar C. Pebbling of the skin: a marker of Hunter's syndrome. Pediatr Dermatol 1998; 15 (05) 370-373
    CrossrefPubMedSearch in Google Scholar
  • 20 Noh TK, Han JS, Won CH. , et al. Characteristic “pebbling” skin eruption as a presenting sign of Hunter syndrome. Int J Dermatol 2014; 53 (12) e594-e596
    CrossrefPubMedSearch in Google Scholar
  • 21 Demitsu T, Kakurai M, Okubo Y. , et al. Skin eruption as the presenting sign of Hunter syndrome IIB. Clin Exp Dermatol 1999; 24 (03) 179-182
    CrossrefPubMedSearch in Google Scholar
  • 22 Srinivas SM, Maganthi M, Sanjeev GN. Pebbling of skin: cutaneous marker of Hunter syndrome. Indian Dermatol Online J 2017; 8 (01) 62-63
    CrossrefPubMedSearch in Google Scholar
  • 23 Singh A, Prasad R, Gupta AK. , et al. I Cell disease (mucolipidosis II Alpha/Beta): from screening to molecular diagnosis. Indian J Pediatr 2017; 84 (02) 144-146
    CrossrefPubMedSearch in Google Scholar