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Biochemical evaluations revealed mild normal anion gap metabolic acidosis with a positive urinary anion gap and prompted us to diagnose RTA based on those. However, their detailed skeletal imaging evaluations suggested dysostosis multiplex. With the suspicion of mucopolysaccharidosis (MPS) type IV, leucocyte N-acetylgalactosamine-6-sulfate sulfatase (<jats:italic>GALNS<\/jats:italic>) enzyme evaluation was done along with whole exome sequencing, confirming our diagnosis. The integrating clinical history, physical examination, radiology and genetic confirmation underscores the complexity of diagnosing rare disorders like MPS IVA and highlights the need for a systematic and multidisciplinary approach.<\/jats:p>","DOI":"10.1136\/bcr-2024-264555","type":"journal-article","created":{"date-parts":[[2025,5,23]],"date-time":"2025-05-23T03:46:24Z","timestamp":1747971984000},"page":"e264555","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Mucopolysaccharidosis type IVA (Morquio A) in twins masquerading as distal renal tubular acidosis"],"prefix":"10.1136","volume":"18","author":[{"given":"Parth","family":"Jethwani","sequence":"first","affiliation":[{"name":"Endocrinology, Shriji Hospital, Kota, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1527-2722","authenticated-orcid":false,"given":"Shinjan","family":"Patra","sequence":"additional","affiliation":[{"name":"Endocrinology and Metabolism, All India Institute of Medical Sciences Nagpur, Nagpur, Maharashtra, India"},{"name":"Endocrinology and Metabolism, All India Institute of Medical Sciences Kalyani, Kalyani, West Bengal, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minal","family":"Pande","sequence":"additional","affiliation":[{"name":"Endocrinology and Metabolism, All India Institute of Medical Sciences Nagpur, Nagpur, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ketki","family":"Kedar","sequence":"additional","affiliation":[{"name":"Radiodiagnosis and Interventional Radiology, All India Institute of Medical Sciences Nagpur, Nagpur, Maharashtra, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,5,22]]},"reference":[{"key":"2025082801570039000_18.5.e264555.1","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2017-221156","article-title":"Mucopolysaccharidosis type IVA (Morquio A): a close differential diagnosis of spondylo-epiphyseal dysplasia","volume":"2017","author":"Biswas","year":"2017","journal-title":"BMJ Case Rep"},{"key":"2025082801570039000_18.5.e264555.2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799267"},{"key":"2025082801570039000_18.5.e264555.3","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgac488"},{"key":"2025082801570039000_18.5.e264555.4","first-page":"125","article-title":"Spondyloepiphyseal dysplasias and bilateral legg-calv\u00e9-perthes disease: diagnostic considerations for mucopolysaccharidoses","volume":"11","author":"Mendelsohn","year":"2013","journal-title":"JIMD Rep"},{"key":"2025082801570039000_18.5.e264555.5","doi-asserted-by":"crossref","first-page":"59","DOI":"10.17925\/EE.2021.17.1.59","article-title":"Renal Tubular Acidosis Manifesting as Severe Metabolic Bone Disease","volume":"17","author":"Boro","year":"2021","journal-title":"touchREV Endocrinol"},{"key":"2025082801570039000_18.5.e264555.6","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1053\/j.ackd.2018.05.003","article-title":"Hypokalemic Distal Renal Tubular Acidosis","volume":"25","author":"Vall\u00e9s","year":"2018","journal-title":"Adv Chronic Kidney Dis"},{"key":"2025082801570039000_18.5.e264555.7","doi-asserted-by":"publisher","DOI":"10.2174\/138920111795542615"},{"key":"2025082801570039000_18.5.e264555.8","doi-asserted-by":"crossref","DOI":"10.1136\/bcr-2018-224392","article-title":"Attenuated form of type II mucopolysaccharidoses (Hunter syndrome): pitfalls and potential clues in diagnosis","volume":"2018","author":"Chakraborty","year":"2018","journal-title":"BMJ Case Rep"},{"key":"2025082801570039000_18.5.e264555.9","doi-asserted-by":"crossref","first-page":"v4","DOI":"10.1093\/rheumatology\/ker394","article-title":"Overview of the mucopolysaccharidoses","volume":"50","author":"Muenzer","year":"2011","journal-title":"Rheumatology (Sunnyvale)"},{"key":"2025082801570039000_18.5.e264555.10","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380060403"},{"key":"2025082801570039000_18.5.e264555.11","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1186\/s13023-014-0173-x","article-title":"A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases","volume":"9","author":"Leadley","year":"2014","journal-title":"Orphanet J Rare Dis"},{"key":"2025082801570039000_18.5.e264555.12","unstructured":"Regier DS , Oetgen M , Tanpaiboon P . 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