- Biochemical and genetic characteristics of the patient with classic homocystinuria.
| Test | Result | Reference range |
|---|---|---|
| Methionine (first sample) | 119 | 8-75 micromol/L |
| Methionine (recall sample) | 146 | 8-75 micromol/L |
| Methionine/Phenylalanine ratio (first sample) | 1 | Less than 1 |
| Methionine/Phenylalanine ratio (recall sample) | 1.9 | Less than 1 |
| Serum Homocysteine | 204.4 micromol/liter | Less than 10 |
| Molecular analysis | a homozygous pathogenic variant of cystathionine beta-synthase gene c.969G>A p.(Trp323*) | |