From: Thiamine transporter-2 deficiency: outcome and treatment monitoring
Patients | 1 | 2 | 3 | 4 |
---|---|---|---|---|
Origin | Morocco | Spain | Spain | Spain |
Mutation SLC19A3 gene | c.68G < T in homozygosis | c.1079dupT/ c.980-14A < G | c.74dupT/ c.980-14A < G | c.74dupT/ c.980-14A < G |
Phenotype | Leigh syndrome | Leigh syndrome | BTBGD | BTBGD |
Sex and Onset | Male, 1 month | Male, 13 months | Female, 4 years | Male, 15 years |
Encephalopathy | Lethargy, vomiting | Irritability, continuous crying | Agitation, lethargy | Agitation, coma |
Extrapiramidal features | Hypotonia, jitteriness, dystonia, opisthotonus, tremor | Hypotonia, status dystonicus, ophistotonus, tremor | Paroxysmal dystonia, generalized dystonia, tremor | Status dystonicus, akinetic-rigid syndrome, tremor |
Cranial nerves | Dysphagia | Dysphagia, nystagmus, strabismus | Anarthria, dysphagia | Nystagmus, ptosis, diplopia, dysarthria, vertigo, facial dyskinesias/hyposthesias |
Others | Pyramidal signs | Ataxia, weight loss, hepatomegaly, jaundice | None | Pyramidal signs, rabdomyolisis, dysautonomia, generalized seizures |
Plasma Lactate (RR 0,7 – 2,4 mmol/L) | 8.6 | 2.3 | 1.6 | 1.2 |
Plasma Pyruvate (RR 0,03-0,1 mmol/L) | 0.14 | 0.1 | 0.21 | 0.13 |
Lactate/Pyruvate ratio (RR 11–30) | 19.1 | 23.4 | 11.5 | 18.2 |
Alpha Alanine (RR 167 – 439 μmol/L) | 637 | 355 | 300 | 370 |
CSF Lactate (RR 1,1 – 2,2 mmol/L) | 7.1 | 1.7 | Not performed | 1.8 |
Organic acid analysis in urine | High excretion of alpha-ketoglutarate (11463 mmol/mol creatinine) | High excretion of 2-hydroxy acids, isobutyric, 2-hydroxy-isovaleric acid, 2,4-dihydroxybutyric | Normal | Normal |