Metabolic Storage Disorders at a Tertiary Care Hospital, Pakistan

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 RKMP 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. KEYWORDS: Glycogen storage diseases; Lysosomal storage diseases; Metabolic diseases; Inborn errors of metabolism; Hepatomegaly; Genetic diseases