{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:06:00Z","timestamp":1756339560145,"version":"3.44.0"},"reference-count":19,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,6,30]]},"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:p>A 22-month-old female child with maple syrup urine disease (MSUD) presented with generalised oedema. Diagnostic evaluation revealed nephrotic range proteinuria, hypoalbuminaemia and dyslipidaemia supporting the diagnosis of nephrotic syndrome (NS). Diet, being at the core of the management plan for both MSUD and NS, necessitated regular monitoring and evaluation via dried blood spot collection of leucine. The opposing requirement for total protein for both disorders (that is protein restriction in MSUD and protein supplementation in NS) prompted a careful balancing act of the dietary management. The monitoring, which revealed normal leucine levels on multiple determinations, allowed an eventual increase in dietary protein and daily administration of albumin to address the NS. Dietary protein increase, both in total protein (3.5\u2009g\/kg\/day) and natural protein (1\u2009g\/kg\/day) levels, was instituted. It was observed that NS does not trigger leucinosis and allowed easing of protein restriction in MSUD.<\/jats:p>","DOI":"10.1136\/bcr-2021-242689","type":"journal-article","created":{"date-parts":[[2021,7,29]],"date-time":"2021-07-29T11:54:12Z","timestamp":1627559652000},"page":"e242689","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Maple syrup urine disease associated with nephrotic syndrome in a Filipino child"],"prefix":"10.1136","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5414-7030","authenticated-orcid":false,"given":"Ebner Bon G","family":"Maceda","sequence":"first","affiliation":[{"name":"Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines"},{"name":"Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle E","family":"Abadingo","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines"},{"name":"Newborn Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheryll J","family":"Magbanua-Calalo","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines"},{"name":"Newborn Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa A","family":"Dator","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lourdes Paula R","family":"Resontoc","sequence":"additional","affiliation":[{"name":"Division of Pediatric Nephrology, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leniza De","family":"Castro-Hamoy","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines"},{"name":"Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary Ann R","family":"Abacan","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines"},{"name":"Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary Anne D","family":"Chiong","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines"},{"name":"Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines"},{"name":"Department of Biochemistry, Molecular Biology and Nutrition, University of Santo Tomas Faculty of Medicine and Surgery, Manila, Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sylvia C","family":"Estrada","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines"},{"name":"Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,7,29]]},"reference":[{"key":"2025082711201921000_14.7.e242689.1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S125962"},{"key":"2025082711201921000_14.7.e242689.2","first-page":"99","article-title":"Clinical and biochemical profiles of maple syrup urine disease in Malaysian children","volume":"5","author":"Yunus","year":"2012","journal-title":"JIMD Rep"},{"key":"2025082711201921000_14.7.e242689.3","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1007\/s10545-008-0859-0","article-title":"Maple syrup urine disease (MSUD)--clinical profile of 47 Filipino patients","volume":"31 Suppl 2","author":"Lee","year":"2008","journal-title":"J Inherit Metab Dis"},{"key":"2025082711201921000_14.7.e242689.4","unstructured":"Chuang DT , Shih VE . Maple syrup urine disease (branched-chain ketoaciduria). In: Scriver CR , Beaudet AL , Sly WS , et al , eds. The metabolic and molecular bases of inherited disease. New York, NY: McGraw-Hill, 2001: 1971\u20132006."},{"key":"2025082711201921000_14.7.e242689.5","unstructured":"Prevalence of newborn screening disorders. Available: https:\/\/www.newbornscreening.ph\/images\/stories\/ResourcesPrevalence\/prevalence-2019.pdf [Accessed 5 Feb 2021]."},{"key":"2025082711201921000_14.7.e242689.6","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.ymgme.2003.10.006","article-title":"A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease","volume":"81","author":"Silao","year":"2004","journal-title":"Mol Genet Metab"},{"key":"2025082711201921000_14.7.e242689.7","doi-asserted-by":"crossref","unstructured":"Avner E , Harmon W , et al . Pediatric Nephrology. 7 edn. Springer-Verlag Berlin Heidelber, 2016.","DOI":"10.1007\/978-3-662-43596-0"},{"key":"2025082711201921000_14.7.e242689.8","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.00380116"},{"key":"2025082711201921000_14.7.e242689.9","unstructured":"Sniderman King L , Trahms C , Scott CR . Tyrosinemia Type I. 2006 Jul 24 [Updated 2017 May 25]. In: Adam MP , Ardinger HH , Pagon RA , eds. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle, 2006: 1993\u20132021. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1515\/"},{"key":"2025082711201921000_14.7.e242689.10","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0130-8"},{"key":"2025082711201921000_14.7.e242689.11","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1007\/s11011-017-9998-z","article-title":"A child with phenylketonuria and focal segmental glomerulosclerosis, the bright side of proteinuria","volume":"32","author":"Rabah","year":"2017","journal-title":"Metab Brain Dis"},{"key":"2025082711201921000_14.7.e242689.12","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1111\/j.1651-2227.1997.tb14827.x","article-title":"Early clinical manifestation of glutaric aciduria type I and nephrotic syndrome during the first months of life","volume":"86","author":"P\u00f6ge","year":"1997","journal-title":"Acta Paediatr"},{"key":"2025082711201921000_14.7.e242689.13","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9548-0"},{"key":"2025082711201921000_14.7.e242689.14","first-page":"170","article-title":"Glutaric Aciduria type I and acute renal failure - Coincidence or causality?","volume":"1","author":"Pode-Shakked","year":"2014","journal-title":"Mol Genet Metab Rep"},{"key":"2025082711201921000_14.7.e242689.15","doi-asserted-by":"crossref","first-page":"398","DOI":"10.2174\/1570161115999170207114706","article-title":"Hypothyroidism and nephrotic syndrome: why, when and how to treat","volume":"15","author":"Mario","year":"2017","journal-title":"Curr Vasc Pharmacol"},{"key":"2025082711201921000_14.7.e242689.16","doi-asserted-by":"publisher","DOI":"10.1542\/pir.36-3-117"},{"key":"2025082711201921000_14.7.e242689.17","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1039\/C5FO01530H","article-title":"Dietary protein intake and human health","volume":"7","author":"Wu","year":"2016","journal-title":"Food Funct"},{"key":"2025082711201921000_14.7.e242689.18","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.05.006"},{"key":"2025082711201921000_14.7.e242689.19","unstructured":"Strauss KA , Puffenberger EG , Carson VJ . Maple Syrup Urine Disease. 2006 Jan 30 [Updated 2020 April 23]. In: Adam MP , Ardinger HH , Pagon RA , et al , eds. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle, 2006: 1993\u20132020. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1319\/"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2021-242689","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T18:20:29Z","timestamp":1756318829000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2021-242689"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":19,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2021,7,29]]},"published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1136\/bcr-2021-242689"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2021-242689","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2021,7]]}}}