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Table 1 The clinical, biochemical and genetic data of the four patients with thiamine transporter-2 deficiency

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

  1. BTBGD: Biotin-thiamine responsive basal ganglia disease.