Table 1

Description of the 5 MLD patients.

Features

Patient F.S.

Patient S.C.

Patient Y.R.

Patient N.M.A

Patient K.H.

Consanguinity of the parents/degree

-

1^stdegree

1^stdegree

1^stdegree

1^stdegree

Age of diagnosis (yr)

43 yr

34 yr

4 yr

3 yr

2 yr

Age of onset (yr)

42 yr

33 yr

4 yr

3 yr

2 yr

Sex

female

Female

Female

Male

Female

Age (yr)

Died at 44 yr

34 yr

5 yr

4 yr

3 yr

ASA activity at 37°C (UV: 12-35 μkat/Kg of Proteine)

7

6

6

10

4

ASA activity at 0°C (UV: 3-9 μkat/Kg of Proteine)

1

2

2

1

2

Qualitative sulfatiduria

Presence of an abnormal band of 3-O-sulfogalactosylceramide (sulfatide)

yr: year, UV: usual value

Barboura et al. Diagnostic Pathology 2012 7:11   doi:10.1186/1746-1596-7-11