Table 1 Description of the 5 MLD patients.
From: Brain MRI and biological diagnosis in five Tunisians MLD patients
Features | Patient F.S. | Patient S.C. | Patient Y.R. | Patient N.M.A | Patient K.H. |
|---|---|---|---|---|---|
Consanguinity of the parents/degree | - | 1stdegree | 1stdegree | 1stdegree | 1stdegree |
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) | ||||