Maple syrup urine disease diagnosed in a resource-limited setting in an infant in Nepal: a case report.

ABSTRACT:

Background

Maple Syrup Urine Disease (MSUD) is a rare inherited disorder of metabolism, which manifests early in life in classical forms. Recurrent illness and exertion aggravate neurotoxicity. This case highlights MSUD diagnosed in association with COVID-19 complications from Nepal.

Case presentation

We present a case of a 4-month-old child with a biochemical diagnosis of flared-up MSUD. Initially presenting with chief complaints of fever, noisy breathing, chest retraction, cough along with lethargy and poor feeding since the first week of life, the child also had developmental delay with feeble neck holding and absent social smile. The child was diagnosed with COVID-19 pneumonia and admitted in the Intensive Care Unit, requiring mechanical ventilation for 12 days. Despite

SUBMITTER: Baidya S 

PROVIDER: S-EPMC11600866 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature