Ontology highlight
ABSTRACT:
SUBMITTER: Maceda EBG
PROVIDER: S-EPMC8323351 | biostudies-literature | 2021 Jul
REPOSITORIES: biostudies-literature
Maceda Ebner Bon G EBG Abadingo Michelle E ME Magbanua-Calalo Cheryll J CJ Dator Melissa A MA Resontoc Lourdes Paula R LPR Castro-Hamoy Leniza De L Abacan Mary Ann R MAR Chiong Mary Anne D MAD Estrada Sylvia C SC
BMJ case reports 20210729 7
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 ...[more]