Table 1

Description of the 7 MPS IVA patients yr: years, mo: months

Features

Patient 1

Patient 2

Patient 3

Patient 4

Patient 5

Patient 6

Patient 7


Consanguinity of the parents/degree

1st degree

1st degree

3rd degree

3rd degree

1st degree

1st degree

1st degree


Age of diagnosis (yr/mo)

3

8

3

5/4

4/5

7/7

7


Age of onset (yr/mo)

18 months

14 months

2

16 months

2/3

18 mo

3


Sex

Male

Female

Male

Female

Female

Female

Female


Age (yr/mo)

15

13

9/8

8

11/7

Died at 7yr

14


Height cm (SD)

1 m (-4.8)

96 (-6)

95 (-5.9)

90 (-6.6)

96 (-8.4)

98 (-5)

122 (-4)


Weight kg (SD)

17 (-3.2)

14 (-3.3)

16 (-3.1)

15 (-2.3)

16 (-3)

15 (-2.3)

26 (-2.3)


GALNS assay (nmoles/h/mg prot)

0.04

0.02

0.03

Not done

0.005

0.06

0.07


Khedhiri et al. Diagnostic Pathology 2011 6:11   doi:10.1186/1746-1596-6-11

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