Table 3.
Demographics, genetic results and symptoms on presentation for FTTDCD patients.
| Subject | Ethnicity | Consanguinity | Gender | Mutations | Co-existing Disorders | Presentation Age | Diagnostic Age | Current Age | Biochemistry at Presentation/Diagnosis | Symptoms Post-Diagnosis |
|---|---|---|---|---|---|---|---|---|---|---|
| 3 | Asian | Yes | Female | c.1763G>A (p.Arg588Gln) |
Coeliac disease | 1 year | 6 years | 8 years | NA | Abdominal pain and hypoketotic hypoglycaemia (sweating when eating sugar). |
| 6 | Asian | Yes | Male | 1610-1612 delTA Gins AT | GSD type IX | 2 years | 2 years | 8 years | NA | Night sweats. |
| 10 | Asian | No | Male | c.550C>T p. (Arg 184*) |
- | 11 years | 12 years | 15 years | Neonatal hepatitis, carnitine deficiency. | Conjugated jaundice, hypoglycaemia, febrile seizure. |
| 13 | Asian | Yes | Female | c.1766 C>T (p.Ser589 Phe) | - | 1 year | 8 years | 15 years | NA | Prolonged jaundice, abdominal pain. |
| 14 | Asian | No | Female | c. 1763G> A (p.Arg588Gln) |
- | 3 years | 3 years | 14 years | NA | Abdominal pain. |
| 20 | Asian | No | Female | c.1781G>A (p.Gly594As) |
Hypothyroidism | 7 years | 8 years | 11 years | Decompensated cirrhosis and thyroid antibodies, elevated plasma citrulline. | Asymptomatic. |
| 21 | Asian | No | Male | R588Q | - | 12 years | 12 years | 12 years | Neonatal hepatitis syndrome, raised citrulline, mildly elevated ammonia. | Asymptomatic. |
| 32 | Asian | No | Female | c.1763G> A (p.Arg588Gln) |
- | 1 year | 14 years | 22 years | Cirrhosis and steatosis. Failure to thrive and hypertonia with generalised aminoaciduria, galactosemia and echogenic enlarged liver. |
Floppiness and rickets. Abdominal pain when fasting for Ramadan (unknown cause). Failure to thrive. |
Abbreviations: NA—Not available; GSD—glycogen storage disease.