TABLE 1.
Patient characteristics.
| Case 1 | Case 2 | Case 3 | |
|---|---|---|---|
| Gender | Female | Female | Female |
| Ethnicity | Pakistani | Arab | Arab |
| Consanguinity | Yes | Yes | Yes |
| Age at presentation | 6 weeks | 9 months | 10 months |
| Presenting symptoms |
Acute liver failure Seizures Hypoglycaemia Multi‐organ dysfunction |
Cirrhotic liver disease |
Hepatosplenomegaly Coagulopathy Elevated transaminases |
| Tyrosine (μmol/L) | 763 | N/A | 179 |
| Newborn DBS SA (μmol/L) | 1.94 | N/A | N/A |
| Repeat DBS SA (μmol/L) | N/A | 0.47 | Positive* |
| Urine SA (Y/N) | N | Y then N | Y |
| Urine 4‐oxo 6‐hydroxyheptanoate (Y/N) | Y | Y | Y |
| Skin cultured fibroblasts FAH activity U/g protein (Normal 1.07–3.76) | 0.43 | 0.2 | 0.08 |
| Genetics | FAH c.974C>T p.(Thr325Met) | FAH c.841C>A p.(Pro281Thr) | FAH c.841C>A p.(Pro281Thr) |
| Age of last follow up | 3 months | 16 years | 2 years |
| Outcome | Deceased | Alive | Alive |
Abbreviations: N, no; N/A, not available; Y, yes.
*
Exact value not available.