Table 2

- Timeline of the studied participant.

Event dateClinical presentationDiagnostic findingsOutcome and intervention
4 June 2019Birth, asymptomaticNBS, universal sampleHigh methionine, high homocystine to repeat NBS
8 June 20194 day old, asymptomaticNBS recallHigh methionine, high homocystine
8 June 20194 day old, asymptomaticDx: homocystinuriaStarted on therapy and metabolic formula
16 July 20196 week old, asymptomaticWhole exome sequencingCBS mutation
NBS - newborn screening, CBS: cystathionine beta-synthase