Diagnosis of an intermediate case of maple syrup urine disease: A case report.

ABSTRACT:

Background

Maple syrup urine disease (MSUD) is an autosomal recessive genetic disorder caused by defects in the catabolism of the branched-chain amino acids (BCAAs). However, the clinical and metabolic screening is limited in identifying all MSUD patients, especially those patients with mild phenotypes or are asymptomatic. This study aims to share the diagnostic experience of an intermediate MSUD case who was missed by metabolic profiling but identified by genetic analysis.

Case summary

This study reports the diagnostic process of a boy with intermediate MSUD. The proband presented with psychomotor retardation and cerebral lesions on magnetic resonance imaging scans at 8 mo of age. Preliminary clinical and metabolic profiling did not support a specific disease. However, whol

SUBMITTER: Lin YT 

PROVIDER: S-EPMC9979284 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature