Table 1 Timeline (following the CARE Guidelines)

• Diagnosed with the aid of newborn screening and commenced on early dietary restriction

1991

• Repeated episodes of metabolic decompensation, usually in the context of catabolic stress associated with non-specific illness, with subsequent brain injury

1991–2007

• Diagnosed with ulcerative colitis

2012

• Diagnosed with Rhegmatogenous Retinal Detachment

2015

• Operated on successfully under general anesthesia, with 23G Vitrectomy

• Follow up (4 months)

2016