Metabolic Storage Disorders at a Tertiary Care Hospital, Pakistan
Keywords:
glycogen storage diseases, lysosomal storage diseases, metabolic diseases, inborn errors of metabolism, hepatomegaly, Genetic diseasesAbstract
OBJECTIVE: To determine the clinical spectrum of metabolic storage disorders presenting to a public sector tertiary care hospital in Karachi, Pakistan.
METHODOLOGY: This retrospective, cross-sectional study was conducted at the Department of Pediatrics, Dr. Ruth K.M Pfau Civil Hospital Karachi, in 2021. We reviewed the medical records of patients from January 2015 to December 2020. We included all pediatric patients admitted with suspicion of metabolic storage disorders based on two or more: visceromegaly, developmental delay, regression of milestones, fits without fever, family history of similar illness, and family history of expiry of children due to unknown reasons. Patients of malaria, enteric fever, epilepsy and cerebral palsy were excluded. We noted the demographic and clinical variables and applied descriptive statistics using SPSS version 22.
RESULTS: Out of n=140 suspected children, n=40 (28.5%) patients were diagnosed with metabolic storage disorder. Among these, 26 (65%) were Lysosomal, and 14 (35%) were Glycogen storage disorders (LSDs and GSDs). The most common clinical feature of LSDs was faltering growth in 23 (88.4%), while for GSDs, it was abdominal distention and hepatomegaly in 100% of patients. Mucopolysaccharidoses were the most common type of LSD identified in 9 (34.6%). Interestingly, family history of similar illness was not a standard feature (19.2% for LSDs and 7% for GSDs).
CONCLUSION: Metabolic storage disorders are an emerging concern to pediatric health in our population. Physicians need to keep a high index of suspicion for patients with faltering growth and visceromegaly, with or without a significant family history.
References
Ferreira CR, van Karnebeek CD, Vockley J, Blau N. A proposed nosology of inborn errors of metabolism. Genet Med. 2019 Jan; 21(1): 102-106. doi: 10.1038/s41436-018-0022-8. Epub 2018 Jun 8.
Goebel HH, Müller HD. Storage diseases: diagnostic position. Ultrastruct Pathol. 2013 Feb; 37(1): 19-22. doi: 10.3109/01913123.2012.670060.
Chin SJ, Fuller M. Prevalence of lysosomal storage disorders in Australia from 2009 to 2020. Lancet Reg Health West Pac. 2021 Dec 12; 19: 100344. doi: 10.1016/j.lanwpc.2021.100344.
Massese M, Tagliaferri F, Dionisi-Vici C, Maiorana A. Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI. Orphanet J Rare Dis. 2022 Jun 20; 17(1): 241. doi: 10.1186/s13023- 022-02387-6.
Almuqbil M. Prevalence of neurometabolic diseases in Saudi Arabia. J Biochem Clin Genet. 2020 May 27; 3(1): 14-21. doi: 10.24911/JBCGenetics/183-1585310179.
Iqbal S, Zakar R, Fischer F, Zakar MZ. Consanguineous marriages and their association with women's reproductive health and fertility behavior in Pakistan: secondary data analysis from Demographic and Health Surveys, 1990–2018. BMC Women's Health. 2022 Apr 14; 22(1): 118. doi: 10.1186/s12905-022-01704-2.
Afroze B, Lakhani L, Naz F, Somani S, Yunus ZM, Brown N. Challenges identified in the management of patients with inherited metabolic disorders–A five year experience from Pakistan. Egypt J Med Human Genet. 2016 July; 17(3): 259-64. doi: 10.1016/j.ejmhg.2016.03.002.
Cheema HA, Malik HS, Parkash A, Fayyaz Z. Spectrum of inherited metabolic disorders in Pakistani children presenting at a tertiary care centre. J Coll Physicians Surg Pak. 2016 Jun 1; 26(6): 498-502.
Ahmed S, Akbar F, Ali AJ, Afroze B. Clinical, pathological and molecular spectrum of patients with glycogen storage diseases in Pakistan. J Pediatr Endocrinol Metab. 2022; 35(3): 373-385. doi: 10.1515/jpem-2021-0575.
Mansoor S. Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan. Orphanet J Rare Dis. 2020 Nov 14; 15(1): 321. doi: 10.1186/s13023-020-01602-6.
Khan K, Farooq N, Raziq F, Ullah H. Hematological presentation of lysosomal storage disorders. Rawal Med J. 2014; 39(1): 28-31.
Saeed A, Arshad H, Alvi A, Suleman H. Clinical presentation and biochemical findings in children with glycogen storage disease type 1a. Pak Armed Forces Med J 2015; 65(5): 682-85.
Singh A, Prasad R, Mishra OP. Spectrum of lysosomal storage disorders at tertiary centre: Retrospective case-record analysis. J Pediatr Genet. 2020 Jun; 9(2): 87-92. doi: 10.1055/s-0039-3402070.
Hafeez A, Ijaz A, Chaudhry N, Ali O, Khadim MT. Diagnosis of inherited metabolic disorders by selective metabolite testing: three years experience at a tertiary care center in Rawalpindi. J Pak Med Assoc. 2020 Jan; 70(1): 53-57. doi: 10.5455/JPMA.301908.
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. doi: 10.1007/s13312-012-0192-4.
Kariyappa P, Manjunath D, Sarode S, Rao US. Clinical spectrum of lysosomal storage disorders in children. Int J Contemp Pediatr. 2022 Aug; 9(8): 757-761. doi: 10.18203/2349-3291.ijcp20221860.
Goyal M, Gupta A. Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare Disease Centre, India. Ann Indian Acad Neurol. 2021 Sep-Oct; 24(5): 686-692. doi: 10.4103/aian.AIAN_1009_20.
Shah I, Tolani D, Shetty NS, Karkare V. Prevalence and clinical profile of glycogen storage diseases in children from Western India. Clin Exp Hepatol. 2020 Feb; 6(1): 9-12. doi: 10.5114/ceh.2020.93050.
Bilal H, Cheema HA, Fayyaz Z, Saeed A, Hamdani SS. Hepatic glycogenosis in children: spectrum of presentation and diagnostic modalities. J Ayub Med Coll Abbottabad. 2019 Jul-Sept; 31(3): 368-71.
Kumar TV, Bhat M, Narayanachar SG, Narayan V, Srikanth AK, Anikar S et al. Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders. PLoS One. 2022 Jul 14; 17(7): e0270373. doi: 10.1371/journal.pone.0270373.
Sheth J, Nair A. Treatment for lysosomal storage disorders. Curr Pharmaceut Design. 2020; 26(40): 5110-8. doi: 10.2174/1381612826666201015154932.
Bajaj S, Magar S, Sheth J. Lysosomal Storage Disorders: An Underdiagnosed Metabolic Disorder. Indian Practitioner. 2020 Jul 7; 73(6): 26-32.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2023 Journal of Liaquat University of Medical & Health Sciences
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.
Submission of a manuscript to the journal implies that all authors have read and agreed to the content of the undertaking form or the Terms and Conditions.
When an article is accepted for publication, the author(s) retain the copyright and are required to grant the publisher the right of first publication and other non-exclusive publishing rights to JLUMHS.
Articles published in the Journal of Liaquat University of Medical & health sciences are open access articles under a Creative Commons Attribution-Noncommercial - Share Alike 4.0 License. This license permits use, distribution and reproduction in any medium; provided the original work is properly cited and initial publication in this journal. This is in accordance with the BOAI definition of open access. In addition to that users are allowed to remix, tweak and build upon the work non-commercially as long as appropriate credit is given and the new creations are licensed under the identical terms. Or, in certain cases it can be stated that all articles and content there in are published under creative commons license unless stated otherwise.