Table 2. Biochemical patient characteristics and details on genetic findings.
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | |
|---|---|---|---|---|---|
| Serum lactate (0.4–2.0 mmol/l) | 1.2–2.2 | 2.4–3.2 | 2.8–7.2 | 1.7–3.0 | 1.8–3.2 |
| Blood alanine (120–460 mmol/l) | 412–484 | 820 | 680 | 190–634 | 410 |
| Urinary ethylmalonic acid (0–16 μmol/mmol creatinine) | 120 | N | N | N | N |
| Urinary methylmalonic acid (0–18 μmol/mmol creatinine) | N | N | 62 | N | 42 |
| Urinary 3-methylglutaconic acid (0–20 μmol/mmol creatinine) | N | N | N | 45–46 | N |
| ATP production (42–81 nmol/h/mU/CS) | 38 | ND | 24 | 28.5 | 30 |
| Complex I (70–250 mU/mU CS) | N | 61 | 52 | N | N |
| Complex II (335–749 mU/mU CS) | N | N | 310 | N | N |
| Complex III (2200–6610 mU/mU CS) | N | N | 2039 | N | N |
| Complex IV (810–3120 mU/mU CS) | N | N | N | N | N |
| Complex V (169–482 mU/mU CS) | N | N | N | N | N |
| Pathogenic mutation (de novo, heterozygous) | PTPN11 c.836A>C | BRAF c.721A>C | BRAF c.721A>C | BRAF c.1914T>G | PTPN11 c.124A>G |
| Second genetic alteration (asymptomatic maternally present) | LHON m.11778G>A | Not found | POLG1 c.2492A>G | MTCO1 m.6489C>A | 1.4-Mb loss in Xp22.31 encompassing the STS genea |
Abbreviations: N, normal; ND, not determined.
a
Present in mother with isolated lamellar ichthyosis.