Table 1.
Clinical Laboratory Values for Affected Individuals with the Homozygous p.R142G FAH Variant
| Proband | Sister | Brother | Reference range | |
|---|---|---|---|---|
| Blood | ||||
| AFP | 32,936 | >40,000 | 41 | <6 ng/ml |
| GGTP | 14 | – | 18 | 9–24 U/l |
| AST | 21 | – | 21 | 8–60 U/l |
| ALT | 12 | – | 14 | 7–55 U/l |
| Bilirubin, Total, S | 0.4 | – | 0.3 | 0.0–0.3 mg/dl |
| Bilirubin, Direct | 0.1 | – | 0.1 | 0.0–0.3 mg/dl |
| PT | 12.4 | – | 12 | 9.5–13.8 sec |
| APTT(S) | 36 | – | 28–38 sec | |
| INR | 1 | – | 1 | 0.8–1.2 |
| Tyrosine | 55 | – | 106 | 31–106 nmol/ml |
| Phenylalanine | 61 | – | 70 | 30–95 nmol/ml |
| Methionine | 28 | – | 35 | 11–37 nmol/ml |
| ALA dehydratase | 7.0 | – | 4.1 | No reference range |
| Urine | ||||
| 5‐Aminolevulinic acid | 16 | – | 25 | ≤20 nmol/ml |
| Organic acids | None detected | – | None detected | No reference range |
| Tyrosine | 71 | – | 212 | 12–208 nmol/mg Cr |
| Methonine | 8 | – | 18 | <20 nmol/mg Cr |
| Phenylalanine | 80 | – | 110 | 11–111 nmol/mg Cr |
Clinical laboratory values for the proband, older deceased sister, and the affected younger brother. No abnormal urine organic acids (including succinylacetone, SUAC) were detected. Values in bold are outside the reference range.