Table 2 Metabolites in generalized and non-generalized patients
From: Galactose epimerase deficiency: lessons from the GalNet registry
Patient | Genotype and enzyme activity | Total galactose in blood | Neonatal Gal-1-P | Urinary galactitol | Transferrin |
|---|---|---|---|---|---|
< 20 mg/dL | < 10 mg/dL or < 0.05 µmol/g Hb | 2–81 mmol/mol creatinine | Pattern: normal/abnormal | ||
Generalized | |||||
P1 | c.[280G > A];[284G > A] RBC: 8.3% | NR | NR | Recent – 11.0 | Neonatal period – Abnormal type I pattern |
Most recent – normal | |||||
P2 | c.[280G > A];[280G > A] RBC: 4.7% | NR | 26 mg/dL | NR | Before initiation of diet – abnormal type I pattern |
After initiation of diet – normal | |||||
P4 | c.[280G > A];[280G > A] RBC and fibroblast: undetectable | NR | 44 mg/dL | NR | Before initiation of diet – abnormal type I pattern |
After initiation of diet – normal | |||||
P6 | c.[632A > G];[820G > C] RBC and fibroblast: undetectable | NR | NR | NR | Few hours after diet initiation – normal |
After initiation of diet – normal | |||||
Non-generalized | |||||
P7 | c.[647C > T];[728A > C] RBC: 17.5%; lymphoblast: 40.1% | Neonatal – 43.0 | 3.4 mg/dL | Neonatal – 19.1 | NR |
recent – 83.0 | |||||
P8 | c. [755 T > C];[755 T > C] RBC: 4.1% | Neonatal – 14 | 2.9 µmol/grHb | NR | NR |
Recent – 11.8 | |||||
P9 | c.[284G > A];[284G > A] RBC: 3.2% | Neonatal – 12.8 | 2.1 µmol/grHb | NR | NR |
Recent – 12.0 | |||||
P10 | c.[449C > T];[449C > T] RBC: 0.0% | Neonatal – 62.9 recent – 6.4 | 10.8 mg/dL | NR | NR |
P11 | c.[646G > A];[646G > A] | Neonatal – > 50 | NR | NR | NR |
Recent – 3.6 | |||||
P12 | c.[796A > C];[538G > A] | Neonatal – 36.4 | NR | NR | NR |
Recent – 1.6 | |||||
P13 | c.[755 T > C];[290C > T] | Neonatal – 35.4 | NR | NR | NR |
Recent – 2.1 | |||||
P14 | c.[484 T > A];[820G > C] RBC: 33.3% | Before diet – 31 | 33.1 mg/dL | NR | NR |
P15 | c.[755 T > C];[755 T > C] RBC: 23.1% | Before diet – 19 | 27.9 mg/dL | NR | NR |
P16 | c.[318_319del];[658C > T] | Neonatal – 80 | 9.5 mg/dL | NR | NR |
Recent – 3.5 | |||||
P17 | c.[647C > T];[602C > T] RBC: 6.4% | NR | 51 mg/dL | Varies between 2 and 19 | No diet – normal |
P18 | c.[647C > T];[602C > T] RBC: 4.5% | NR | 69.7 mg/dL | Varies between 4 and 60 | No diet – normal |
P20 | RBC 30.0% | NR | 5.0 mg/dL | Recent – 1.17 | NR |
P21 | c.[602C > T];[214G > A] RBC: 0.0% | NR | NR | Recent – 1 | No diet – normal |
P22 | Heterozygous c.237G > ARBC: 1.7%; fibroblast: 31.4% | Recent –2.3 mg/dL | 36.9 mg/dL | Neonatal – 10.0 | Before initiation of diet – normal |