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Maple syrup urine disease associated with nephrotic syndrome in a Filipino child
  1. Ebner Bon G Maceda1,2,
  2. Michelle E Abadingo1,3,
  3. Cheryll J Magbanua-Calalo1,3,
  4. Melissa A Dator4,
  5. Lourdes Paula R Resontoc4,
  6. Leniza De Castro-Hamoy1,2,
  7. Mary Ann R Abacan1,2,
  8. Mary Anne D Chiong1,2,5 and
  9. Sylvia C Estrada1,2
  1. 1Division of Clinical Genetics, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines
  2. 2Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila, Manila, Philippines
  3. 3Newborn Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines
  4. 4Division of Pediatric Nephrology, Department of Pediatrics, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines
  5. 5Department of Biochemistry, Molecular Biology and Nutrition, University of Santo Tomas Faculty of Medicine and Surgery, Manila, Philippines
  1. Correspondence to Dr Ebner Bon G Maceda; egmaceda{at}up.edu.ph

Abstract

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 g/kg/day) and natural protein (1 g/kg/day) levels, was instituted. It was observed that NS does not trigger leucinosis and allowed easing of protein restriction in MSUD.

  • medical management
  • paediatrics
  • genetics

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Footnotes

  • Contributors EBGM: Participated in the writing and the consolidation of the paper. MEA and CJM-C: Participated in the writing of the paper. MAD: Participated in the writing of the paper, especially the part on nephrology. LPRR, LDCH, MARA, MADC and SCE: Writing—review and editing.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer-reviewed.

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