- Timeline of the studied participant.
| Event date | Clinical presentation | Diagnostic findings | Outcome and intervention |
|---|---|---|---|
| 4 June 2019 | Birth, asymptomatic | NBS, universal sample | High methionine, high homocystine to repeat NBS |
| 8 June 2019 | 4 day old, asymptomatic | NBS recall | High methionine, high homocystine |
| 8 June 2019 | 4 day old, asymptomatic | Dx: homocystinuria | Started on therapy and metabolic formula |
| 16 July 2019 | 6 week old, asymptomatic | Whole exome sequencing | CBS mutation |
| NBS - newborn screening, CBS: cystathionine beta-synthase | |||