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Maple syrup urine disease associated with nephrotic syndrome in a Filipino child
- Source :
- BMJ Case Reports. 14:e242689
- Publication Year :
- 2021
- Publisher :
- BMJ, 2021.
-
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.
- Subjects :
- 0301 basic medicine
medicine.medical_specialty
Nephrotic Syndrome
Gastroenterology
03 medical and health sciences
0302 clinical medicine
Maple Syrup Urine Disease
Generalised oedema
Leucine
Internal medicine
Humans
Medicine
Child
business.industry
Maple syrup urine disease
Albumin
Dietary management
Infant
nutritional and metabolic diseases
General Medicine
medicine.disease
Diet
Dried blood spot
030104 developmental biology
Female
Dietary Proteins
business
Nephrotic syndrome
030217 neurology & neurosurgery
Nephrotic range proteinuria
Subjects
Details
- ISSN :
- 1757790X
- Volume :
- 14
- Database :
- OpenAIRE
- Journal :
- BMJ Case Reports
- Accession number :
- edsair.doi.dedup.....ce62e3a02e2291c490651f817af9f93a